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What is (are) Split hand split foot nystagmus ? | Split hand split foot nystagmus is a rare congenital syndrome characterized by split hand and split foot deformity and eye abnormalities, especially nystagmus. It is thought to have an autosomal dominant mode of inheritance. Currently, the underlying genetic defect has not been identified. The outlook for children with this condition is good. | 9 | 52 |
What are the symptoms of Split hand split foot nystagmus ? | What are the signs and symptoms of Split hand split foot nystagmus? People with this condition are born with split hands and feet. Split hands and split foot refers to a developmental malformation consisting of missing digits (fingers and/or toes), a deep median cleft (cleft down the center of the hand or foot), and fusion of remaining digits. People with this syndrome also have rapid involuntary movements of the eyes, called nystagmus. Abnormalities of the teeth can occur rarely. The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand split foot nystagmus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nystagmus 90% Split foot 90% Split hand 90% Abnormality of the metacarpal bones 50% Strabismus 50% Visual impairment 50% Abnormality of retinal pigmentation 7.5% Cataract 7.5% Autosomal dominant inheritance - Congenital nystagmus - Monodactyly (hands) - Retinopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 11 | 334 |
Is Split hand split foot nystagmus inherited ? | How is split hand split foot nystagmus inherited? Split hand split foot nystagmus is thought to be inherited in an autosomal dominant fashion. A person with an autosomal dominant condition has a 50% chance of passing the condition on to their children. Click here to learn more about autosomal dominant inheritance. Sometimes a person is the only one in their family with the autosomal dominant disorder. One explanation for this is that the person has a de novo or new mutation. De novo mutations refer to a change in a gene that is present for the first time in one family member as a result of a mutation in the mothers egg or fathers sperm, or in the fertilized egg itself. In addition, there have been a couple of case reports where unaffected parents had more than one child with split hand split foot nystagmus. It is thought that this may have been due to germline mosaicism. In germline mosaicism, one of the unaffected parents has the disease-causing genetic mutation in some of his/her eggs or sperm only. Click here to learn more about mosaicism. | 8 | 185 |
What are the symptoms of Beardwell syndrome ? | What are the signs and symptoms of Beardwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Beardwell syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Osteoarthritis 90% Obesity 50% Palmoplantar keratoderma 50% Autosomal dominant inheritance - Punctate palmar and solar hyperkeratosis - Vertebral hyperostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 8 | 243 |
What is (are) Congenital deafness with vitiligo and achalasia ? | Congenital deafness with vitiligo and achalasia is a syndrome characterized by deafness present from birth (congenital), associated with short stature, vitiligo, muscle wasting and achalasia (swallowing difficulties). The condition was described in a brother and sister born to first cousin parents. It is believed to be inherited in an autosomal recessive manner. | 10 | 52 |
What are the symptoms of Congenital deafness with vitiligo and achalasia ? | What are the signs and symptoms of Congenital deafness with vitiligo and achalasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital deafness with vitiligo and achalasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) EEG abnormality 90% Hypopigmented skin patches 90% Sensorineural hearing impairment 90% Short stature 90% Skeletal muscle atrophy 90% Achalasia - Autosomal recessive inheritance - Hearing impairment - Vitiligo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 12 | 260 |
What are the symptoms of Camptodactyly arthropathy coxa vara pericarditis syndrome ? | What are the signs and symptoms of Camptodactyly arthropathy coxa vara pericarditis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly arthropathy coxa vara pericarditis syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthritis - Arthropathy - Autosomal recessive inheritance - Congenital finger flexion contractures - Constrictive pericarditis - Coxa vara - Flattened metacarpal heads - Flattened metatarsal heads - Generalized morning stiffness - Synovial hypertrophy - Wrist flexion contracture - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 12 | 269 |
What is (are) Situs inversus ? | Situs inversus is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy. It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected people. The underlying cause and genetics of situs inversus are complex. Familial cases have been reported. | 6 | 70 |
What are the symptoms of Situs inversus ? | What are the signs and symptoms of situs inversus? In isolated situs inversus (occurring alone with no other abnormalities), there is a complete mirror image transposition of the thoracic (chest) and abdominal organs, and anterior-posterior (front-back) symmetry is normal. Many affected people have no associated health issues when the condition is isolated. When situs inversus occurs in association with other conditions such as Kartagener syndrome or primary ciliary dyskinesia, additional signs and symptoms relating to these conditions will be present. | 8 | 80 |
Is Situs inversus inherited ? | Is situs inversus inherited? The genetics of situs inversus is complex. Several familial cases have been reported in which the inheritance has been described as either autosomal recessive (most commonly), autosomal dominant, or X-linked. The condition appears to be genetically heterogeneous, meaning that different genetic factors or genes may cause the condition among different people or families. If situs inversus is associated with another underlying syndrome or condition, the inheritance pattern may be the same as that of the underlying condition. People with questions about genetic risks to themselves or family members are encouraged to speak with a genetics professional. | 5 | 100 |
How to diagnose Situs inversus ? | How is situs inversus diagnosed? A thorough physical examination, followed by radiographic imaging of the chest and abdomen and electrocardiography, identify most cases of situs inversus. The main diagnostic challenge in affected people is the non-traditional presence of referred pain (pain felt in a different location than its source). | 6 | 49 |
What are the treatments for Situs inversus ? | How might situs inversus be treated? In isolated situs inversus, no treatment may be necessary. When situs inversus is associated with another condition, treatment may depend on the associated condition and the signs and symptoms present in the affected person. Knowing that a person has situs inversus is important for diagnosing medical problems and preventing surgical mishaps that can result from the failure to recognize reversed anatomy. For example, in a person with situs inversus, appendicitis causes pain in the left lower abdomen instead of the right lower abdomen. Wearing medical identification can help ensure proper treatment in an emergency medical situation. | 8 | 102 |
What are the symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ? | What are the signs and symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of adipose tissue 90% Abnormality of epiphysis morphology 90% Arthralgia 90% Behavioral abnormality 90% Bone cyst 90% Bone pain 90% Cerebral cortical atrophy 90% Developmental regression 90% Limitation of joint mobility 90% Memory impairment 90% Reduced bone mineral density 90% Skeletal dysplasia 90% Ventriculomegaly 90% Agnosia 50% Cerebral calcification 50% Chorea 50% Hypertonia 50% Neurological speech impairment 50% Oculomotor apraxia 50% Seizures 50% Abnormality of the abdominal organs 7.5% Acute leukemia 7.5% Hydrocephalus 7.5% Abnormal upper motor neuron morphology - Abnormality of the foot - Abnormality of the hand - Aggressive behavior - Apraxia - Autosomal recessive inheritance - Axonal loss - Babinski sign - Basal ganglia calcification - Caudate atrophy - Cerebral atrophy - Disinhibition - EEG abnormality - Frontal lobe dementia - Gait disturbance - Gliosis - Hypoplasia of the corpus callosum - Lack of insight - Leukoencephalopathy - Myoclonus - Pathologic fracture - Peripheral demyelination - Personality changes - Primitive reflexes (palmomental, snout, glabellar) - Spasticity - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 12 | 395 |
What are the symptoms of Myelocytic leukemia-like syndrome, familial, chronic ? | What are the signs and symptoms of Myelocytic leukemia-like syndrome, familial, chronic? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelocytic leukemia-like syndrome, familial, chronic. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chronic myelogenous leukemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 11 | 233 |
What are the symptoms of Tremor hereditary essential, 2 ? | What are the signs and symptoms of Tremor hereditary essential, 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Tremor hereditary essential, 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Upper limb postural tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 10 | 236 |
What is (are) Pyridoxine-dependent epilepsy ? | Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. This gene is inherited in an autosomal recessive fashion. | 6 | 97 |
What are the symptoms of Pyridoxine-dependent epilepsy ? | What are the signs and symptoms of Pyridoxine-dependent epilepsy? Those affected by pyridoxine-dependent epilepsy typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Additional features of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure episode. In rare instances, children with this condition do not have seizures until they are 1 to 3 years old. If left untreated, people with this condition can develop severe brain dysfunction (encephalopathy). Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur. The Human Phenotype Ontology provides the following list of signs and symptoms for Pyridoxine-dependent epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of movement 90% Cognitive impairment 90% EEG abnormality 90% Neurological speech impairment 90% Seizures 90% Muscular hypotonia 50% Cerebral cortical atrophy 7.5% Hepatomegaly 7.5% Strabismus 7.5% Ventriculomegaly 7.5% Autosomal recessive inheritance - Delayed speech and language development - Generalized myoclonic seizures - Generalized tonic-clonic seizures - Intellectual disability - Neonatal respiratory distress - Prenatal movement abnormality - Respiratory distress - Status epilepticus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 8 | 392 |
What causes Pyridoxine-dependent epilepsy ? | What causes pyridoxine-dependent epilepsy? Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. The ALDH7A1 gene provides instructions for making an enzyme called -aminoadipic semialdehyde (-AASA) dehydrogenase, also known as antiquitin. This enzyme is involved in the breakdown of the protein building block (amino acid) lysine in the brain. When antiquitin is deficient, a molecule that interferes with vitamin B6 function builds up in various tissues. Pyridoxine plays a role in many processes in the body, such as the breakdown of amino acids and the productions of chemicals that transmit signals in the brain (neurotransmitters). It is unclear how a lack of pyridoxine causes the seizures that are characteristic of this condition. Some individuals with pyridoxine-dependent epilepsy do not have identified mutations in the ALDH7A1 gene. In these cases, the cause of the condition is unknown. | 5 | 186 |
What are the treatments for Pyridoxine-dependent epilepsy ? | How might pyridoxine-dependent epilepsy be treated? Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). Recent studies have focused on using a lysine-restricted diet in addition to pyridoxine. Preliminary results suggest that this treatment has the potential to help control seizures and improve developmental outcomes in children with pyridoxine-dependent epilepsy. | 8 | 81 |
What is (are) Ankylosing spondylitis ? | Ankylosing spondylitis (AS) is a type of chronic, inflammatory arthritis that mainly affects the spine. It usually begins with inflammation of the joints between the pelvic bones and spine, gradually spreading to the joints between the vertebrae. Signs and symptoms usually begin in adolescence or early adulthood and may include back pain and stiffness. Back movement gradually becomes more limited as the vertebrae fuse together. The condition may also affect the shoulders; ribs; hips; knees; and feet; as well as the eyes; bowel; and very rarely, the heart and lungs. AS is likely caused by a combination of genetic and environmental factors; variations in several genes are thought to affect the risk to develop AS. In most cases, treatment involves exercise and medications to relieve pain and inflammation. | 6 | 128 |
What are the symptoms of Ankylosing spondylitis ? | What are the signs and symptoms of Ankylosing spondylitis? Ankylosing spondylitis (AS) primarily affects the spine, but may affect other parts of the body too. Signs and symptoms usually begin in adolescence or early adulthood and include back pain and stiffness. Back movement gradually becomes more limited over time as the vertebrae fuse together. Many affected people have mild back pain that comes and goes; others have severe, chronic pain. In very severe cases, the rib cage may become stiffened, making it difficult to breathe deeply. In some people, the condition involves other areas of the body, such as the shoulders, hips, knees, and/or the small joints of the hands and feet. It may affect various places where tendons and ligaments attach to the bones. Sometimes it can affect other organs including the eyes, and very rarely, the heart and lungs. Episodes of eye inflammation may cause eye pain and increased sensitivity to light (photophobia). Neurological complications of AS may include an inability to control urination and bowel movements (incontinence), and the absence of normal reflexes in the ankles due to pressure on the lower portion of the spinal cord (cauda equina). The Human Phenotype Ontology provides the following list of signs and symptoms for Ankylosing spondylitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the oral cavity 90% Abnormality of the sacroiliac joint 90% Arthralgia 90% Arthritis 90% Diarrhea 90% Enthesitis 90% Inflammatory abnormality of the eye 90% Joint swelling 90% Spinal rigidity 90% Abnormality of the thorax 50% Myalgia 50% Respiratory insufficiency 50% Abdominal pain 7.5% Abnormal tendon morphology 7.5% Abnormality of temperature regulation 7.5% Abnormality of the aortic valve 7.5% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Anorexia 7.5% Arrhythmia 7.5% Autoimmunity 7.5% Cartilage destruction 7.5% Hematuria 7.5% Hemiplegia/hemiparesis 7.5% Hyperkeratosis 7.5% Nephrolithiasis 7.5% Nephropathy 7.5% Nephrotic syndrome 7.5% Osteomyelitis 7.5% Proteinuria 7.5% Pulmonary fibrosis 7.5% Pustule 7.5% Recurrent fractures 7.5% Recurrent urinary tract infections 7.5% Renal insufficiency 7.5% Skin rash 7.5% Skin ulcer 7.5% Anterior uveitis - Aortic regurgitation - Back pain - Hip osteoarthritis - Inflammation of the large intestine - Kyphosis - Multifactorial inheritance - Psoriasis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 8 | 556 |
Is Ankylosing spondylitis inherited ? | Is ankylosing spondylitis inherited? Although ankylosing spondylitis (AS) can affect more than one person in a family, it is not a purely genetic disease. While genes seem to play a role, the exact cause of AS is not known. It is considered to be multifactorial, which means that multiple genetic and environmental factors likely interact to affect a person's risk to develop AS. Most of these factors have not been identified. Inheriting a genetic variation that has been associated with AS does not mean a person will develop AS. Currently, it is not possible to predict the exact likelihood that the children of an affected person will develop the disease. You can find more information about the genetics of AS from Genetics Home Reference, the U.S National Library of Medicine's Web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions. | 5 | 147 |
What are the treatments for Ankylosing spondylitis ? | How might ankylosing spondylitis be treated? The main goal of treatment for people with ankylosing spondylitis (AS) is to maximize long-term quality of life. This may involve easing symptoms of pain and stiffness; retaining function; preventing complications (such as contractures); and minimizing the effects of associated conditions. Education, exercise, and medications are all very important in managing AS. An exercise program is recommended for all affected people, and some may need individual physical therapy. Affected people are encouraged to speak with their health care provider before instituting any changes to an exercise regime. Video demonstrations of exercises tailored for ankylosing spondylitis are available for viewing through the National Ankylosing Spondylitis Society in the UK. Medications may include nonsteroidal anti-inflammatory drugs (NSAIDs); pain relievers; sulfasalazine; and anti-tumor necrosis factor drugs. Steroid injections may be helpful for some people. Most people don't need surgery, but it may be indicated when there is severe, persistent pain or severe limitation in mobility and quality of life. Smoking creates additional problems for people with AS, so affected people who smoke should quit. More detailed information about the treatment of ankylosing spondylitis is available on Medscape's Web site. You may need to register to view the article, but registration is free. | 8 | 205 |
What are the symptoms of Cone-rod dystrophy 6 ? | What are the signs and symptoms of Cone-rod dystrophy 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Childhood onset - Cone/cone-rod dystrophy - Peripheral visual field loss - Reduced visual acuity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 9 | 244 |
What are the symptoms of Mucopolysaccharidosis type VI ? | What are the signs and symptoms of Mucopolysaccharidosis type VI? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type VI. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the nasal alae 90% Coarse facial features 90% Limitation of joint mobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Otitis media 90% Short stature 90% Sinusitis 90% Thick lower lip vermilion 90% Abnormality of the ribs 50% Genu valgum 50% Hearing impairment 50% Hernia 50% Kyphosis 50% Short neck 50% Splenomegaly 50% Abnormality of the heart valves 7.5% Abnormality of the tongue 7.5% Cognitive impairment 7.5% Visual impairment 7.5% Anterior wedging of L1 - Anterior wedging of L2 - Autosomal recessive inheritance - Broad ribs - Cardiomyopathy - Cervical myelopathy - Depressed nasal bridge - Dermatan sulfate excretion in urine - Disproportionate short-trunk short stature - Dolichocephaly - Dysostosis multiplex - Epiphyseal dysplasia - Flared iliac wings - Glaucoma - Hepatomegaly - Hip dysplasia - Hirsutism - Hydrocephalus - Hypoplasia of the odontoid process - Hypoplastic acetabulae - Hypoplastic iliac wing - Inguinal hernia - Joint stiffness - Lumbar hyperlordosis - Macrocephaly - Macroglossia - Metaphyseal irregularity - Metaphyseal widening - Ovoid vertebral bodies - Prominent sternum - Recurrent upper respiratory tract infections - Split hand - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 9 | 414 |
What are the symptoms of Wolman disease ? | What are the signs and symptoms of Wolman disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Wolman disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Cognitive impairment 90% Hepatic failure 90% Hepatomegaly 90% Hyperkeratosis 90% Malabsorption 90% Nausea and vomiting 90% Anemia 50% Ascites 50% Atherosclerosis 50% Congenital hepatic fibrosis 50% Multiple lipomas 50% Splenomegaly 50% Weight loss 50% Abnormality of temperature regulation 7.5% Abnormality of the adrenal glands 7.5% Cirrhosis 7.5% Esophageal varix 7.5% Pruritus 7.5% Reduced consciousness/confusion 7.5% Adrenal calcification - Autosomal recessive inheritance - Bone-marrow foam cells - Death in infancy - Diarrhea - Failure to thrive - Hepatic fibrosis - Hepatosplenomegaly - Hypercholesterolemia - Protuberant abdomen - Pulmonary hypertension - Steatorrhea - Vacuolated lymphocytes - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 8 | 322 |
What is (are) Idiopathic neutropenia ? | Idiopathic neutropenia is an acquired form of severe chronic neutropenia whose cause is unknown. Neutropenia is a blood condition that causes a reduced number or complete absence of neutrophils, a type of white blood cell that is responsible for much of the body's protection against infection. Symptoms include fever, moth sores, and other types of infections. Neutropenia idiopathic may occur in children and adults. Frequency and severity of infections appear to be directly related to neutrophil count; while clinical problems in individual patients may vary, in general, those patients with more severe neutropenia have more frequent infections. Most patients respond well to granulocyte-colony stimulating factor (G-CSF). Long-term treatment is usually required. | 6 | 111 |
What are the symptoms of Idiopathic neutropenia ? | What are the signs and symptoms of Idiopathic neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic neutropenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acute myeloid leukemia 7.5% Autosomal dominant inheritance - Neutropenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 8 | 233 |
What are the symptoms of Ectrodactyly and ectodermal dysplasia without cleft lip/palate ? | What are the signs and symptoms of Ectrodactyly and ectodermal dysplasia without cleft lip/palate? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly and ectodermal dysplasia without cleft lip/palate. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the teeth - Autosomal dominant inheritance - Ectodermal dysplasia - Hypotrichosis - Split foot - Split hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 13 | 253 |
What are the symptoms of Cleidorhizomelic syndrome ? | What are the signs and symptoms of Cleidorhizomelic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleidorhizomelic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the clavicle 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Single transverse palmar crease 50% Autosomal dominant inheritance - Rhizomelia - Short middle phalanx of the 5th finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 8 | 256 |
What are the symptoms of Spermatogenesis arrest ? | What are the signs and symptoms of Spermatogenesis arrest? The Human Phenotype Ontology provides the following list of signs and symptoms for Spermatogenesis arrest. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Autosomal recessive inheritance - Azoospermia - Recurrent spontaneous abortion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 8 | 241 |
What are the symptoms of IVIC syndrome ? | What are the signs and symptoms of IVIC syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for IVIC syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hearing impairment 90% Limitation of joint mobility 90% Short stature 90% Strabismus 90% Abnormal dermatoglyphics 50% Aplasia/Hypoplasia of the thumb 50% Radioulnar synostosis 50% Scoliosis 50% Synostosis of carpal bones 50% Triphalangeal thumb 50% Abnormality of the clavicle 7.5% Arrhythmia 7.5% Leukocytosis 7.5% Preaxial hand polydactyly 7.5% Thrombocytopenia 7.5% Urogenital fistula 7.5% Absent thumb - Anal atresia - Autosomal dominant inheritance - Carpal bone hypoplasia - Carpal synostosis - External ophthalmoplegia - Hypoplasia of deltoid muscle - Hypoplasia of the radius - Intestinal malrotation - Limited elbow movement - Limited interphalangeal movement - Limited wrist movement - Pectoralis major hypoplasia - Phenotypic variability - Rectovaginal fistula - Short 1st metacarpal - Small thenar eminence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 8 | 338 |
What is (are) Wandering spleen ? | Wandering spleen is a rare condition that occurs when the spleen lacks one or more of the ligments that hold the spleen in its normal position in the upper left abdomen. If a person is born with this condition it is referred to as congenital wandering spleen. The condition is not hereditary. Acquired wandering spleen may occur during adulthood due to injuries or other underlying conditions that may weaken the ligaments that hold the spleen. Symptoms of wandering spleen may include englargement of the spleen (splenomegaly), abdominal pain, intestinal obstruction, nausea, vomiting, fever, and a lump in the abdomen or the pelvis. Some individuals with this condition do not have symptoms. Treatment for this condition involes removal of the spleen (splenectomy). | 6 | 121 |
What are the treatments for Wandering spleen ? | How might wandering spleen be treated? Because wandering spleen can cause life-threatening complications (such as splenic infarction, portal hypertension, and hemorrhage), surgery to remove the spleen is the preferred treatment method for patients. Laparoscopic splenectomy is the typical method used for spleen removal. Splenopexy (surgically fixing the floating spleen) is associated with a high risk of recurrence and complications and is not the preferred treatment choice. | 8 | 66 |
What are the symptoms of Ichthyosis hystrix, Curth Macklin type ? | What are the signs and symptoms of Ichthyosis hystrix, Curth Macklin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis hystrix, Curth Macklin type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hyperkeratosis 90% Ichthyosis 90% Skin ulcer 90% Abnormality of the fingernails 50% Flexion contracture 50% Gangrene 7.5% Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 11 | 254 |
What is (are) Silicosis ? | Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20 years) to low amounts of silica dust. Simple chronic silicosis may cause people to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 years of exposure of higher levels of silica. Swelling of the lungs and other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica. The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition. | 5 | 167 |
What are the symptoms of Silicosis ? | What are the symptoms of silicosis? Symptoms of silicosis may include: Chronic cough Shortness of breath with exercise, usually in patients who have progressive massive fibrosis Weakness Other symptoms of this disease, especially in acute silicosis, may also include: Cough Fever Severe breathing difficulty Weight loss Night Sweats Chest pains | 7 | 50 |
What causes Silicosis ? | What causes silicosis? Silicosis is caused by breathing in tiny bits of silica dust. When people breathe silica dust, they inhale tiny particles of silica that has crystallized. This silica dust can cause fluid buildup and scar tissue in the lungs that cuts down the ability to breathe. | 4 | 48 |
What is (are) Aicardi-Goutieres syndrome type 4 ? | Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive. | 8 | 107 |
What are the symptoms of Aicardi-Goutieres syndrome type 4 ? | What are the signs and symptoms of Aicardi-Goutieres syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Cerebral calcification - Convex nasal ridge - CSF lymphocytic pleiocytosis - Death in childhood - Dystonia - Elevated hepatic transaminases - Feeding difficulties - Hepatomegaly - Hepatosplenomegaly - Hydrocephalus - Infantile onset - Intrauterine growth retardation - Leukodystrophy - Low-set ears - Pancytopenia - Progressive microcephaly - Severe global developmental delay - Spasticity - Splenomegaly - Thrombocytopenia - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 10 | 297 |
What is (are) Ulcerative proctitis ? | Ulcerative proctitis is a type of ulcerative colitis that affects the rectum. The symptoms of this form of proctitis may include bleeding from the rectum, the need to go to the bathroom frequently, tenesmus, diarrhea or constipation, and rectal pain. People with ulcerative proctitis tend to have episodes when the symptoms worsen and periods without symptoms, although the course of the disease varies among affected individuals. Treatment involves applying 5-aminosalicylic acid (5-ASA) or steroid creams to the rectum. In some cases, an oral version of 5-ASA is used to prevent episodes. | 6 | 91 |
What are the symptoms of Striatonigral degeneration infantile ? | What are the signs and symptoms of Striatonigral degeneration infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Striatonigral degeneration infantile. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Choreoathetosis - Developmental regression - Developmental stagnation - Dysphagia - Dystonia - Failure to thrive - Intellectual disability - Optic atrophy - Pendular nystagmus - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 9 | 256 |
What are the symptoms of Glycosylphosphatidylinositol deficiency ? | What are the signs and symptoms of Glycosylphosphatidylinositol deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycosylphosphatidylinositol deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hepatomegaly - Portal hypertension - Portal vein thrombosis - Seizures - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 8 | 240 |
What is (are) Leukoplakia ? | Leukoplakia is a condition in which thickened, white patches form on the tongue, gums, inside of the cheek, or sometimes on the outer female genitals. Although the sores can vary in appearance, they are usually white or gray; thick; and slightly raised with a hard surface. The condition is thought to be caused by irritation, but the cause is not always known. Tobacco is considered to be the main cause of its development in the mouth. Most patches are benign, but a small percentage show early signs of cancer. Removing the source of irritation may cause the condition to go away, but surgery to remove the sore(s) may be necessary in some cases. | 5 | 113 |
What are the symptoms of Leukoplakia ? | What are the early signs of cancer in vulvar leukoplakia? Early signs of cancer may not be apparent. The clinical appearance of leukoplakia does not generally correlate with its appearance when examined under a microscope. For example, the lesion may appear unchanged for a period of time but may actually show changes when looked at under a microscope. Therefore, a biopsy is typically recommended in all cases to determine which lesions are precancerous. Small lesions may be biopsied and just followed periodically if it is shown to remain benign. However, those that show precancerous or cancerous features should be removed. | 7 | 100 |
What are the treatments for Leukoplakia ? | How might leukoplakia be treated? For most people, removing the source of irritation is important and often causes the lesion to disappear. For example, if tobacco use is thought to be the cause, stopping tobacco use usually clears the condition. Dental causes such as rough teeth or fillings should be treated as soon as possible. When this is not effective or if the lesions show early signs of cancer, treatment may include removing the patches. The lesion is usually removed in the health care provider's office using local anesthesia. Leukoplakia on the vulva is treated in the same way as oral lesions. Recurrences are common, so follow-up visits with a physician are recommended. | 7 | 113 |
What are the symptoms of Dwarfism, mental retardation and eye abnormality ? | What are the signs and symptoms of Dwarfism, mental retardation and eye abnormality? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, mental retardation and eye abnormality. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Freckling 90% Neurological speech impairment 90% Short stature 90% Behavioral abnormality 50% Cataract 50% EEG abnormality 50% Myopia 50% Abnormality of movement 7.5% Hypertrichosis 7.5% Abnormality of the orbital region - Autosomal recessive inheritance - Hypoplasia of the iris - Intellectual disability - Microcephaly - Nuclear cataract - Severe Myopia - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 12 | 289 |
What are the symptoms of Neuhauser Eichner Opitz syndrome ? | What are the signs and symptoms of Neuhauser Eichner Opitz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuhauser Eichner Opitz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertonia 90% Incoordination 90% Abnormality of movement 50% Joint hypermobility 50% Babinski sign 30% Behavioral abnormality 7.5% Muscular hypotonia 7.5% Neurological speech impairment 7.5% Areflexia - Athetosis - Autosomal dominant inheritance - Choreoathetosis - Dysarthria - Intention tremor - Lethargy - Recurrent encephalopathy - Truncal ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 10 | 274 |
What is (are) Eosinophilic fasciitis ? | Eosinophilic fasciitis is a very rare condition in which muscle tissue underneath the skin, called fascia, becomes swollen and thick. Rapid swelling can occur in the hands, arms, legs, and feet. People with this condition have a buildup of eosinophils, a type of white blood cell, in the affected fascia and muscles. The exact cause of this condition is unknown. Corticosteroids and other immune-suppressing medications are used to relieve the symptoms. Eosinophilic fasciitis is similar in appearance to scleroderma but is not related. | 6 | 83 |
What are the symptoms of Eosinophilic fasciitis ? | What are the signs and symptoms of Eosinophilic fasciitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Eosinophilic fasciitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acrocyanosis 90% Cellulitis 90% Hypermelanotic macule 90% Muscular edema 90% Myalgia 90% Arthralgia 50% Arthritis 50% Myositis 7.5% Paresthesia 7.5% Weight loss 7.5% Autosomal recessive inheritance - Eosinophilic fasciitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 8 | 253 |
What are the treatments for Eosinophilic fasciitis ? | How might eosinophilic fasciitis be treated? About 10-20% of people with eosinophilic fasciitis recover spontaneously without treatment. For those who do not, glucocorticoids (0.51 mg/kg/d), such as prednisone, are the mainstay therapy. Even with treatment, improvement in symptoms can take weeks or months. Glucocorticoids are successful in treating eosionophilic fasciitis in over 70% of cases. If glucocorticoids are unsuccessful, methotrexate at low doses (1525 mg once weekly) is probably the most favored second-line treatment, especially in people with reddish to purpleish (morphea-like) skin lesions. Other treatment options include NSAIDs, D-penicillamine, chloroquine, cimetidine, azathioprine, cyclosporin A, infliximab, UVA-1, and bath PUVA. Physical therapy may help improve joint mobility and decrease contractures. Surgical release has been used in some severe cases to manage significant joint contractures. | 8 | 124 |
What is (are) Oculocutaneous albinism ? | Oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes. Individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements (nystagmus), crossed eyes (strabismus), or increased sensitivity to light (photophobia). All types of oculocutaneous albinism are caused by gene mutations that are inherited in an autosomal recessive manner. Treatment includes covering the skin from sun exposure by using sunscreen and protective clothing and attending to vision problems by wearing glasses. | 6 | 93 |
What are the symptoms of Oculocutaneous albinism ? | What are the signs and symptoms of Oculocutaneous albinism? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cutaneous photosensitivity 90% Generalized hypopigmentation 90% Hypopigmentation of hair 90% Nystagmus 90% Ocular albinism 90% Visual impairment 90% Abnormality of the macula 50% Astigmatism 50% Hypermetropia 50% Myopia 50% Photophobia 50% Strabismus 50% Neoplasm of the skin 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 8 | 261 |
What are the treatments for Oculocutaneous albinism ? | What treatments are available for oculocutaneous albinism? Individuals with oculocutaneous albinism should have annual skin examinations to check for skin damage or skin cancer and annual eye examination to check vision. Affected individuals should cover their skin from sun exposure by using sunscreen and wearing protective clothing such as long-sleeve shirts, long pants, and hats with wide brims. Glasses may be worn to reduce sensitivity to bright light or to improve vision. Additional therapies or surgery may be used to treat crossed eyes (strabismus) or rapid eye movements (nystagmus). | 8 | 89 |
What are the symptoms of Renal tubular dysgenesis ? | What are the signs and symptoms of Renal tubular dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular dysgenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the renal tubule 90% Aplasia/Hypoplasia of the lungs 90% Hypertelorism 90% Joint hypermobility 90% Polycystic kidney dysplasia 90% Polyhydramnios 90% Premature birth 90% Microcephaly 7.5% Nephropathy 7.5% Oligohydramnios 7.5% Single transverse palmar crease 7.5% Tetralogy of Fallot 7.5% Anuria - Autosomal recessive inheritance - Hypotension - Potter facies - Pulmonary hypoplasia - Renotubular dysgenesis - Respiratory insufficiency - Widely patent fontanelles and sutures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 9 | 291 |
What is (are) Polycystic liver disease ? | Polycystic liver disease is an inherited condition characterized by many cysts of various sizes scattered throughout the liver. Abdominal discomfort from swelling of the liver may occur; however, most affected individuals do not have any symptoms. In some cases, polycystic liver disease appears to occur randomly, with no apparent cause. Most cases are inherited in an autosomal dominant fashion. Sometimes, cysts are found in the liver in association with the presence of autosomal dominant polycystic kidney disease (AD-PKD). In fact, about half of the people who have AD-PKD experience liver cysts. However, kidney cysts are uncommon in those affected by polycystic liver disease. | 7 | 103 |
What are the symptoms of Polycystic liver disease ? | What are the signs and symptoms of Polycystic liver disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic liver disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hepatomegaly 90% Polycystic kidney dysplasia 50% Abdominal pain 7.5% Abnormality of the pancreas 7.5% Aneurysm 7.5% Elevated alkaline phosphatase 7.5% Feeding difficulties in infancy 7.5% Gastrointestinal hemorrhage 7.5% Respiratory insufficiency 7.5% Abdominal distention - Abnormality of the cardiovascular system - Abnormality of the nervous system - Ascites - Autosomal dominant inheritance - Back pain - Increased total bilirubin - Polycystic liver disease - Renal cyst - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 9 | 291 |
What are the symptoms of Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ? | What are the signs and symptoms of Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Hepatomegaly 90% Ichthyosis 90% Splenomegaly 90% Abnormality of dental enamel 7.5% Acanthosis nigricans 7.5% Portal hypertension 7.5% Reduced number of teeth 7.5% Abnormality of blood and blood-forming tissues - Alopecia - Autosomal recessive inheritance - Cholangitis - Dry skin - Hypodontia - Hypoplasia of dental enamel - Hypotrichosis - Jaundice - Oligodontia - Orthokeratosis - Parakeratosis - Sparse eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 13 | 303 |
What is (are) CDKL5-related disorder ? | A CDKL5-related disorder is a genetic, neuro-developmental condition due to changes (mutations) in the CDKL5 gene. Epileptic encephalopathy (epilepsy accompanied by cognitive and behavioral problems) is the core symptom of a CDKL5-related disorder. Seizures typically begin before 5 months of age. Affected people often have severe intellectual disability with absent speech, and features that resemble Rett syndrome such as hand stereotypies (repetitive movements) and slowed head growth. CDKL5-related disorders have more commonly been reported in females. The inheritance pattern is X-linked dominant. Almost all reported cases have been due to a new mutation in the affected person; one family with 3 affected members has been described. Treatment is symptomatic. In the past, mutations in the CDKL5 gene have been found in people diagnosed with infantile spasms and/or West syndrome; Lennox-Gastaut syndrome; Rett syndrome; a form of atypical Rett syndrome known as the early-onset seizure type; and autism. However, it has more recently been suggested that CDKL5 mutations cause a separate, specific disorder with features that may overlap with these conditions. | 6 | 170 |
What are the symptoms of Brachydactyly type A1 ? | What are the signs and symptoms of Brachydactyly type A1? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the thumb 90% Brachydactyly syndrome 90% Short hallux 90% Short stature 90% Cone-shaped epiphysis 50% Abnormality of the metacarpal bones 7.5% Abnormality of the ulna 7.5% Clinodactyly of the 5th finger 7.5% Scoliosis 7.5% Symphalangism affecting the phalanges of the hand 7.5% Talipes 7.5% Absent distal interphalangeal creases - Autosomal dominant inheritance - Broad metacarpal epiphyses - Broad palm - Distal symphalangism (hands) - Flattened metatarsal heads - Heterogeneous - Proportionate shortening of all digits - Radial deviation of the 2nd finger - Radial deviation of the 3rd finger - Radial deviation of the 4th finger - Short distal phalanx of finger - Short metacarpal - Short palm - Short proximal phalanx of hallux - Short proximal phalanx of thumb - Slender metacarpals - Thin proximal phalanges with broad epiphyses of the hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 9 | 361 |
What is (are) Spinocerebellar ataxia 2 ? | Spinocerebellar ataxia 2 (SCA2) is a progressive disorder that causes symptoms including uncoordinated movement (ataxia), speech and swallowing difficulties, muscle wasting, slow eye movement, and sometimes dementia. Signs and symptoms usually begin in mid-adulthood but can appear any time from childhood to late-adulthood. SCA2 is caused by mutations in the ATXN2 gene and is inherited in an autosomal dominant manner. | 7 | 60 |
What are the symptoms of Spinocerebellar ataxia 2 ? | What are the signs and symptoms of Spinocerebellar ataxia 2? Early symptoms of spinocerebellar ataxia may include uncoordinated movement (ataxia) and leg cramps. Other symptoms may include tremor; decreased muscle tone; poor tendon reflexes; abnormal eye movements; dementia; dystonia and/or chorea; muscle twitches; nerve irritation and swelling (polyneuropathy); leg weakness; difficulty swallowing; bladder dysfunction; and parkinsonism. The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Bradykinesia - Dementia - Dilated fourth ventricle - Distal amyotrophy - Dysarthria - Dysdiadochokinesis - Dysmetria - Dysmetric saccades - Dysphagia - Fasciculations - Gaze-evoked nystagmus - Genetic anticipation - Hyporeflexia - Impaired horizontal smooth pursuit - Limb ataxia - Muscular hypotonia - Myoclonus - Oculomotor apraxia - Olivopontocerebellar atrophy - Ophthalmoplegia - Postural instability - Postural tremor - Progressive cerebellar ataxia - Rigidity - Rod-cone dystrophy - Slow saccadic eye movements - Spasticity - Spinocerebellar tract degeneration - Urinary bladder sphincter dysfunction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 9 | 359 |
Is Spinocerebellar ataxia 2 inherited ? | How is spinocerebellar ataxia 2 inherited? Spinocerebellar ataxia 2 (SCA2) is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of ATXN2 (the responsible gene) in each cell is enough to cause signs and symptoms of the condition. The ATXN2 gene mutations that cause SCA2 involve a DNA sequence called a 'CAG trinucleotide repeat.' It is made up of a series of three DNA building blocks (CAG stands for cytosine, adenine, and guanine) that appear multiple times in a row. The CAG sequence is normally repeated about 22 times in the gene, but it can be repeated up to 31 times without causing health problems. SCA2 develops in people who have 32 or more CAG repeats in the ATXN2 gene. In most cases, an affected person inherits the mutated gene (with too many repeats) from an affected parent. However, in some cases, an affected person does not have an affected parent. People with an increased number of CAG repeats who don't develop SCA2 are still at risk of having children who will develop the disorder. This is because as the gene is passed down from parent to child, the number of CAG repeats often increases. In general, the more repeats a person has, the earlier symptoms begin. This phenomenon is called anticipation. People with 32 or 33 repeats tend to develop symptoms in late adulthood, while people with more than 45 repeats often have symptoms by their teens. For some reason, the number of repeats tend to increase more when the gene is inherited from a person's father than when inherited from a person's mother. Each child of an affected person has a 50% chance of inheriting the CAG repeat expansion. | 6 | 286 |
How to diagnose Spinocerebellar ataxia 2 ? | Is genetic testing available for spinocerebellar ataxia 2? Yes. Molecular genetic testing (analysis of DNA) is needed for a diagnosis of spinocerebellar ataxia 2 (SCA2). This testing detects abnormal CAG trinucleotide repeat expansions in the ATXN2 gene. Affected people (or people who will later develop symptoms of SCA2) have a copy of the ATXN2 gene that has 33 or more CAG repeats. This testing detects nearly 100% of cases of SCA2. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for SCA2. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. | 7 | 120 |
What are the treatments for Spinocerebellar ataxia 2 ? | How might spinocerebellar ataxia 2 be treated? Treatment of spinocerebellar ataxia 2 (SCA2) is supportive and aims to help the affected person maintain their independence and avoid injury. It is recommended that people with SCA2 remain physically active, maintain a healthy weight, use adaptive equipment as needed, and avoid alcohol and medications that affect cerebellar function. Adaptive equipment may include canes or other devices to help with walking and mobility. People with SCA2 may develop difficulty speaking and may need to use computerized devices or writing pads to help with communication. Levodopa may be prescribed to help with some of the movement problems (e.g., rigidity and tremor), and magnesium may improve muscle cramping. | 9 | 113 |
What are the symptoms of Ulna hypoplasia with mental retardation ? | What are the signs and symptoms of Ulna hypoplasia with mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna hypoplasia with mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Abnormality of the ulna 90% Anonychia 90% Aplasia/Hypoplasia of the radius 90% Aplastic/hypoplastic toenail 90% Cognitive impairment 90% Elbow dislocation 90% Limitation of joint mobility 90% Micromelia 90% Muscular hypotonia 90% Short stature 90% Talipes 90% Ulnar deviation of finger 90% Abnormality of thumb phalanx 50% Preaxial foot polydactyly 50% Absent fingernail - Absent toenail - Autosomal recessive inheritance - Bilateral ulnar hypoplasia - Intellectual disability, profound - Limitation of knee mobility - Limited elbow movement - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 11 | 317 |
What are the symptoms of Pallister-Killian mosaic syndrome ? | What are the signs and symptoms of Pallister-Killian mosaic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pallister-Killian mosaic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Decreased body weight 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Downturned corners of mouth 90% Hypohidrosis 90% Joint hypermobility 90% Long philtrum 90% Muscular hypotonia 90% Ptosis 90% Short neck 90% Thin vermilion border 90% Anteverted nares 50% Coarse facial features 50% Frontal bossing 50% Hypertelorism 50% Short nose 50% Telecanthus 50% Upslanted palpebral fissure 50% Abnormality of the soft palate 7.5% Strabismus 7.5% Urogenital fistula 7.5% Anal atresia - Anal stenosis - Anteriorly placed anus - Aortic valve stenosis - Aplasia of the uterus - Atria septal defect - Bifid uvula - Broad foot - Broad palm - Cataract - Cleft palate - Clinodactyly of the 5th finger - Coarctation of aorta - Congenital diaphragmatic hernia - Congenital hip dislocation - Cryptorchidism - Depressed nasal bridge - Epicanthus - Flexion contracture - Full cheeks - Hearing impairment - Hyperpigmented streaks - Hypertonia - Hypertrophic cardiomyopathy - Hypopigmented streaks - Hypoplastic labia majora - Hypospadias - Inguinal hernia - Intellectual disability, profound - Intestinal malrotation - Kyphoscoliosis - Macrocephaly - Macroglossia - Macrotia - Mesomelia - Mesomelic/rhizomelic limb shortening - Obesity - Omphalocele - Patent ductus arteriosus - Postaxial foot polydactyly - Postaxial hand polydactyly - Postnatal microcephaly - Prominent forehead - Proptosis - Pulmonary hypoplasia - Renal cyst - Renal dysplasia - Rhizomelia - Seizures - Short phalanx of finger - Short toe - Single transverse palmar crease - Small scrotum - Somatic mosaicism - Sparse anterior scalp hair - Sparse eyebrow - Sparse eyelashes - Stenosis of the external auditory canal - Stillbirth - Supernumerary nipple - Umbilical hernia - Ventricular septal defect - Webbed neck - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 9 | 513 |
What is (are) Punctate inner choroidopathy ? | Punctate inner choroidopathy (PIC) is an inflammatory disorder that primarily affects the choroid of the eye and occurs predominantly in young, nearsighted (myopic) women. Signs and symptoms may include scotomata, blurred vision, photopsias, floaters, photophobia, distorted vision (metamorphopsia), and/or loss of peripheral vision. The majority of cases are self-limited with good visual prognosis, but permanent and severe visual loss can occur as a result of the development of choroidal neovascular membranes (CNV). The cause of PIC is not known, but it is thought to involve both genetic predisposition and environmental factors. The majority of affected individuals who do not have CNV do not require treatment; for others, treatment may include medication, laser photocoagulation, photodynamic therapy (treatment with drugs that become active when exposed to light) and/or surgery. | 7 | 127 |
What are the symptoms of Anterior polar cataract 2 ? | What are the signs and symptoms of Anterior polar cataract 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Anterior polar cataract 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anterior polar cataract - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 10 | 235 |
What are the symptoms of Hypochromic microcytic anemia with iron overload ? | What are the signs and symptoms of Hypochromic microcytic anemia with iron overload? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochromic microcytic anemia with iron overload. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Abnormality of the liver - Anemia - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 12 | 246 |
What is (are) Muscle eye brain disease ? | Muscle eye brain disease is a rare form of congenital muscular dystrophy. Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability. People with muscle eye brain disease frequently have additional eye abnormalities, hydrocephalus, and distinctive facial features. This condition is caused by mutations in gene a called POMGNT1, and it is inherited in an autosomal recessive pattern. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. | 8 | 91 |
What are the symptoms of Muscle eye brain disease ? | What are the signs and symptoms of Muscle eye brain disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscle eye brain disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% EEG abnormality 90% EMG abnormality 90% Gait disturbance 90% Glaucoma 90% Hydrocephalus 90% Myopathy 90% Myopia 90% Neurological speech impairment 90% Optic atrophy 90% Strabismus 90% Visual impairment 90% Abnormality of the voice 50% Cataract 50% Hypertonia 50% Muscular hypotonia 50% Seizures 50% Aplasia/Hypoplasia of the cerebellum 7.5% Hemiplegia/hemiparesis 7.5% Holoprosencephaly 7.5% Meningocele 7.5% Autosomal recessive inheritance - Buphthalmos - Cerebellar cyst - Cerebellar dysplasia - Cerebellar hypoplasia - Coloboma - Congenital myopia - Congenital onset - Decreased light- and dark-adapted electroretinogram amplitude - Elevated serum creatine phosphokinase - Enlarged flash visual evoked potentials - Generalized hypotonia - Generalized muscle weakness - Heterogeneous - Hypoplasia of midface - Hypoplasia of the brainstem - Hypoplasia of the retina - Intellectual disability, profound - Intellectual disability, severe - Malar flattening - Megalocornea - Microcephaly - Microphthalmia - Muscle weakness - Muscular dystrophy - Myoclonus - Nystagmus - Opacification of the corneal stroma - Pachygyria - Pallor - Phenotypic variability - Polymicrogyria - Retinal atrophy - Retinal dysplasia - Severe global developmental delay - Severe muscular hypotonia - Short nasal bridge - Spasticity - Type II lissencephaly - Uncontrolled eye movements - Undetectable electroretinogram - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 10 | 424 |
What causes Muscle eye brain disease ? | What causes muscle eye brain disease? Muscle eye brain disease is caused by mutations in the POMGNT1 gene. This gene provides instructions for making a protein that is involved in adding sugar molecules to a protein called alpha dystroglycan. Alpha dystroglycan is important for stabilizing the muscle cell during contraction and relaxation. This protein is also found in the brain and spinal cord (central nervous system), eye, and other parts of the body. All of the reported mutations in the POMGNT1 gene result in a complete loss of function of the POMGNT1 protein. The lack of functional POMGNT1 protein disrupts production of alpha dystroglycan. | 7 | 104 |
What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E ? | What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type E. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Stage 5 chronic kidney disease 5% Areflexia - Autosomal dominant inheritance - Axonal loss - Distal lower limb amyotrophy - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Focal segmental glomerulosclerosis - Foot dorsiflexor weakness - Hammertoe - Hyporeflexia - Onion bulb formation - Pes cavus - Progressive - Proteinuria - Split hand - Steppage gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 13 | 295 |
What are the symptoms of Ectrodactyly cleft palate syndrome ? | What are the signs and symptoms of Ectrodactyly cleft palate syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly cleft palate syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Autosomal dominant inheritance - Cleft palate - Split hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 10 | 242 |
What is (are) Malignant eccrine spiradenoma ? | Malignant eccrine spiradenoma is a type of tumor that develops from a sweat gland in the skin. It starts as a rapidly-growing bump on the head or abdomen, and may cause tenderness, redness, or an open wound. The exact cause of malignant eccrine spiradenoma is unknown, though it is thought that sun exposure or problems with the immune system (immunosuppression) may contribute to the development of this tumor. Because malignant eccrine spiradenoma is quite rare, there are no established treatment guidelines; however, in practice, surgery is often performed to remove the tumor and additional treatments may follow, depending on the severity and extent of the cancer. | 7 | 106 |
What are the treatments for Malignant eccrine spiradenoma ? | How might malignant eccrine spiradenoma be treated? Surgery to remove as much of the tumor as possible is usually the first step of treatment for malignant eccrine spiradenoma. Both a traditional surgical technique known as wide local excision and the newer Mohs micrographic surgery are thought to be effective for treating this cancer. Additional treatment may include radiation therapy to destroy any cancer cells that might remain after surgery. Though chemotherapy has been used in cases of malignant eccrine spiradenoma, it is thought to be of limited help in treating this disease. | 9 | 92 |
What is (are) L-arginine:glycine amidinotransferase deficiency ? | L-arginine:glycine amidinotransferase (AGAT) deficiency is a rare condition that primarily affects the brain. People with AGAT deficiency generally have mild to moderate intellectual disability. Other signs and symptoms may include seizures, delayed language development, muscle weakness, failure to thrive, autistic behaviors, and delayed motor milestones (i.e. walking, sitting). AGAT deficiency is caused by changes (mutations) in the GATM gene and is inherited in an autosomal recessive manner. Treatment of AGAT deficiency is focused on increasing cerebral creatine levels and generally consists of supplementation with creatine monohydrate. | 7 | 86 |
What are the symptoms of L-arginine:glycine amidinotransferase deficiency ? | What are the signs and symptoms of L-arginine:glycine amidinotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for L-arginine:glycine amidinotransferase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gowers sign 5% Abnormality of creatine metabolism - Autism - Autosomal recessive inheritance - Delayed speech and language development - Failure to thrive - Infantile onset - Intellectual disability - Organic aciduria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 9 | 258 |
What is (are) Microhydranencephaly ? | Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms may include extreme microcephaly, scalp rugae (a series of ridges), profound developmental delay and severe intellectual disability. Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocephalus (accumulation of fluid in the brain). In most cases, the underlying cause is unknown. Rarely, the condition is caused by changes (mutations) in the NDE1 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. | 5 | 88 |
What are the symptoms of Microhydranencephaly ? | What are the signs and symptoms of Microhydranencephaly? Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms can vary but generally include: Extreme microcephaly Scalp rugae (a series of ridges) Profound developmental delay Severe intellectual disability Spasticity Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocephalus (accumulation of fluid in the brain). The Human Phenotype Ontology provides the following list of signs and symptoms for Microhydranencephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agenesis of corpus callosum - Athetosis - Autosomal recessive inheritance - Cerebellar hypoplasia - Generalized myoclonic seizures - Hydranencephaly - Hyperreflexia - Hypoplasia of the brainstem - Intellectual disability, progressive - Intellectual disability, severe - Macrotia - Microcephaly - Multiple joint contractures - Pachygyria - Prominent nasal bridge - Proptosis - Self-mutilation - Short stature - Skeletal muscle atrophy - Sloping forehead - Spastic tetraplegia - Talipes equinovarus - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 7 | 343 |
What causes Microhydranencephaly ? | What causes microhydranencephaly? In many cases, the exact, underlying cause of microhydranencephaly is unknown. There are reports of families in which the condition is caused by changes (mutations) in the NDE1 gene. In these rare cases, more than one family member (often a pair of siblings) had the condition. | 4 | 49 |
Is Microhydranencephaly inherited ? | Is microhydranencephaly inherited? Most cases of microhydranencephaly occur sporadically in people with no family history of the condition. However, the condition can rarely affect more than one family member and be inherited in an autosomal recessive manner. In these cases, an affected person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. | 4 | 141 |
How to diagnose Microhydranencephaly ? | How is microhydranencephaly diagnosed? A diagnosis of microhydranencephaly is generally suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies to evaluate the brain for structural abnormalities and severe hydrocephalus (accumulation of fluid in the brain). | 5 | 52 |
What are the symptoms of Punctate palmoplantar keratoderma type 2 ? | What are the signs and symptoms of Punctate palmoplantar keratoderma type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Punctate palmoplantar keratoderma type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the skin 90% Palmoplantar keratoderma 90% Neoplasm of the skin 7.5% Autosomal dominant inheritance - Palmar telangiectasia - Plantar telangiectasia - Porokeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 11 | 254 |
What are the symptoms of Lipodystrophy, familial partial, type 2 ? | What are the signs and symptoms of Lipodystrophy, familial partial, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipodystrophy, familial partial, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of lipid metabolism 90% Diabetes mellitus 90% Hepatomegaly 90% Insulin resistance 90% Lipoatrophy 90% Multiple lipomas 90% Round face 90% Skeletal muscle hypertrophy 90% Acute pancreatitis 75% Abnormality of the nail 50% Advanced eruption of teeth 50% Secondary amenorrhea 50% Thin skin 50% Abnormality of complement system 7.5% Acanthosis nigricans 7.5% Cellulitis 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Glomerulopathy 7.5% Hepatic steatosis 7.5% Hypertrichosis 7.5% Hypertrophic cardiomyopathy 7.5% Myalgia 7.5% Myopathy 7.5% Polycystic ovaries 7.5% Splenomegaly 7.5% Toxemia of pregnancy 7.5% Adipose tissue loss - Atherosclerosis - Autosomal dominant inheritance - Decreased subcutaneous fat - Enlarged peripheral nerve - Hirsutism - Hyperglycemia - Hyperinsulinemia - Hypertension - Hypertriglyceridemia - Hypoalphalipoproteinemia - Increased adipose tissue around the neck - Increased facial adipose tissue - Increased intraabdominal fat - Increased intramuscular fat - Insulin-resistant diabetes mellitus - Labial pseudohypertrophy - Loss of subcutaneous adipose tissue in limbs - Loss of truncal subcutaneous adipose tissue - Prominent superficial veins - Xanthomatosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 11 | 396 |
What is (are) Schwannomatosis ? | Schwannomatosis is a rare form of neurofibromatosis that is primarily characterized by multiple schwannomas (benign tumors of the nervous system) in the absence of bilateral (affecting both sides) vestibular schwannomas. Signs and symptoms of the condition vary based on the size, location and number of schwannomas but may include pain; numbness; tingling; and/or weakness in the fingers and toes. Inherited forms of the disorder account for only 15 percent of all cases. In some of these families, schwannomatosis is caused by changes (mutations) in the SMARCB1 or LZTR1 genes; in other cases, the exact underlying cause is unknown. When inherited, the condition is passed down in an autosomal dominant manner with highly variable expressivity and reduced penetrance. Treatment is based on the signs and symptoms present in each person but may include medications and/or surgery. | 5 | 135 |
What are the symptoms of Schwannomatosis ? | What are the signs and symptoms of Schwannomatosis? Signs and symptoms of the schwannomatosis often develop during adulthood between ages 25 and 30. Affected people generally have multiple schwannomas, which are benign tumors of the nervous system. In schwannomatosis, these tumors can grow along any nerve in the body, although they are less common on the vestibular nerve (vestibular schwannomas, also known as acoustic neuromas). People with vestibular schwannomas, especially those with tumors affecting the vestibular nerve on both sides of the head (bilateral), may have neurofibromatosis type 2 instead. The signs and symptoms associated with schwannomatosis vary based on the size and location of the schwannomas. The most common symptom is chronic pain, which can develop as a growing schwannoma presses on nerves or surrounding tissues. Some people may develop a mass if the schwannomas is located just beneath the skin. Others can experience neurological symptoms such as numbness; tingling; and/or weakness in the fingers and toes. The Human Phenotype Ontology provides the following list of signs and symptoms for Schwannomatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Abnormality of the vertebral column - Autosomal dominant inheritance - Incomplete penetrance - Meningioma - Schwannoma - Somatic mutation - Spinal cord tumor - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 7 | 403 |
What causes Schwannomatosis ? | What causes schwannomatosis? Some cases of schwannomatosis are caused by changes (mutations) in the SMARCB1 or LZTR1 genes. SMARCB1 and LZTR1 are tumor suppressor genes, which means that they encode a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in these genes result in abnormal proteins that are unable to carry out their normal roles. This contributes to the development of the many different types of tumors found in schwannomatosis. When schwannomatosis is caused by a mutation in SMARCB1 or LZTR1, the affected person is typically born with one mutated copy of the gene in each cell and is, therefore, genetically predisposed to develop the tumors associated with the condition. For a tumor to form, two copies of the gene must be altered. The mutation in the second copy of the gene is considered a somatic mutation because it occurs during a person's lifetime and is not inherited. In affected people without a mutation in SMARCB1 or LZTR1, the underlying cause of the condition is unknown. | 4 | 174 |
Is Schwannomatosis inherited ? | Is schwannomatosis inherited? Approximately 15% percent of all schwannomatosis cases are thought to be inherited. In these cases, the condition is thought to be inherited in an autosomal dominant manner with highly variable expressivity and reduced penetrance. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with schwannomatosis. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. People with an inherited form of schwannomatosis have a 50% chance with each pregnancy of passing the condition on to the next generation. | 4 | 130 |
How to diagnose Schwannomatosis ? | How is schwannomatosis diagnosed? A diagnosis of schwannomatosis is often suspected based on the presence of characteristic signs and symptoms, especially if there are other family members with the condition. Additional testing can then be ordered to further support the diagnosis and rule out other conditions with similar features (namely, neurofibromatosis type 2). This may include: Tumor pathology confirming that the growths are, in fact, schwannomas Imaging studies, such as an MRI examining the vestibular nerve. It is important to rule out the presence of bilateral (affecting both sides) vestibular schwannomas which would be suggestive of neurofibromatosis type 2 rather than schwannomatosis Genetic testing for a change (mutation) in the SMARCB1 or LZTR1 genes. Unfortunately, genetic testing is not informative in all people affected by schwannomatosis. | 5 | 126 |
What are the treatments for Schwannomatosis ? | How might schwannomatosis be treated? Treatment for schwannomatosis is based on the signs and symptoms present in each person. For example, pain is one of the most common symptoms of the condition. Treatment with medications such as gabapentin or pregabalin and the use of short-acting opioids and/or nonsteroidal anti-inflammatories for pain can be successful for many patients. If pain cannot be managed with other means or if the schwannomas are causing other symptoms, they can be surgically removed. However this treatment is often used as a last resort because surgery may put patients at risk of further neurologic problems. | 7 | 99 |
What is (are) Usher syndrome, type 1B ? | Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations. | 8 | 74 |
What are the symptoms of Usher syndrome, type 1B ? | What are the signs and symptoms of Usher syndrome, type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent vestibular function - Autosomal recessive inheritance - Heterogeneous - Motor delay - Rod-cone dystrophy - Sensorineural hearing impairment - Undetectable electroretinogram - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 10 | 253 |
Is Usher syndrome, type 1B inherited ? | How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected. | 7 | 119 |
What is (are) Split hand split foot malformation autosomal recessive ? | Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. | 11 | 168 |
What are the symptoms of Woodhouse Sakati syndrome ? | What are the signs and symptoms of Woodhouse Sakati syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Woodhouse Sakati syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the genital system 90% Arrhythmia 90% Cognitive impairment 90% Hearing impairment 90% Type I diabetes mellitus 90% Anodontia 5% Hallucinations 5% Prominent nasal bridge 5% Protruding ear 5% Psychosis 5% Triangular face 5% Abnormality of extrapyramidal motor function - Alopecia - Autosomal recessive inheritance - Choreoathetosis - Decreased serum testosterone level - Decreased testicular size - Diabetes mellitus - Dysarthria - Dystonia - EKG: T-wave abnormalities - Fine hair - Hypergonadotropic hypogonadism - Hyperlipidemia - Hypogonadotrophic hypogonadism - Hypoplasia of the fallopian tube - Hypoplasia of the uterus - Intellectual disability - Micropenis - Phenotypic variability - Primary ovarian failure - Sensorineural hearing impairment - Sparse hair - Thyroid-stimulating hormone excess - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 9 | 339 |
What is (are) Catamenial pneumothorax ? | Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax. Treatment is with hormones and surgery. | 6 | 143 |
What are the symptoms of Catamenial pneumothorax ? | What are the signs and symptoms of Catamenial pneumothorax? The Human Phenotype Ontology provides the following list of signs and symptoms for Catamenial pneumothorax. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Decreased fertility - Dysmenorrhea - Endometriosis - Multifactorial inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 8 | 237 |
What causes Catamenial pneumothorax ? | What causes catamenial pneumothorax? The exact cause is not known. However, spontaneous collapse of the lung (pneumothorax) occurs in 72% to 73% of cases of thoracic endometriosis. Thoracic endometriosis is a condition in which endometrial tissue is present in the chest (thoracic) cavity. It is more often seen in women who are about 34 years old. Thoracic endometriosis can be found in most cases of catamenial pneumothorax. Pneumothorax associated with endometriosis may also occur without being related with menstruation (non-catamenial pneumothorax) even in cases with no symptoms or without diagnosis of pelvic endometriosis. | 5 | 93 |
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