fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Microphthalmia syndromic 8 ?
What are the signs and symptoms of Microphthalmia syndromic 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 8. 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 affecting the eye 90% Cognitive impairment 90% Mandibular prognathia 90% Median cleft lip 90% Microcephaly 90% Split foot 90% Cryptorchidism 50% Triphalangeal thumb 50% Visual impairment 50% Ventricular septal defect 7.5% Blepharophimosis - Cleft palate - Intellectual disability - Microcornea - Microphthalmia - Oral cleft - Premature skin wrinkling - Short palpebral fissure - Widely-spaced maxillary central incisors - 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. + GARD + Microphthalmia syndromic 8
What are the symptoms of PPM-X syndrome ?
What are the signs and symptoms of PPM-X syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PPM-X 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) Behavioral abnormality 90% Cognitive impairment 90% Hypertonia 90% Macroorchidism 90% EEG abnormality 50% Gait disturbance 50% Macrotia 50% Seizures 50% Abnormality of the cardiovascular system 7.5% Developmental regression 7.5% Scoliosis 7.5% Abnormality of the teeth - Ataxia - Babinski sign - Bruxism - Choreoathetosis - Delayed speech and language development - Drooling - Excessive salivation - Facial hypotonia - High palate - Hyperreflexia - Intellectual disability, mild - Microcephaly - Parkinsonism - Pes cavus - Psychosis - Short neck - Shuffling gait - Slow progression - Spastic gait - Tremor - X-linked 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. + GARD + PPM-X syndrome
What are the symptoms of Van Bogaert-Hozay syndrome ?
What are the signs and symptoms of Van Bogaert-Hozay syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Bogaert-Hozay 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 hair - Abnormality of the pinna - Astigmatism - Autosomal recessive inheritance - Depressed nasal bridge - Distal ulnar hypoplasia - Intellectual disability, mild - Misalignment of teeth - Myopia - Osteolytic defects of the phalanges 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. + GARD + Van Bogaert-Hozay syndrome
What is (are) Juvenile retinoschisis ?
Juvenile retinoschisis is an eye condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. The condition affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. This affects the sharpness of vision. Central vision is more commonly affected. Vision often deteriorates early in life, but then usually becomes stable until late adulthood. A second decline in vision typically occurs in a man's fifties or sixties. Sometimes severe complications occur, including separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These can lead to blindness. Juvenile retinoschisis is caused by mutations in the RS1 gene. It is inherited in an X-linked recessive pattern. Low-vision aids can be helpful. Surgery may be needed for some complications. + GARD + Juvenile retinoschisis
What are the symptoms of Juvenile retinoschisis ?
What are the signs and symptoms of Juvenile retinoschisis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile retinoschisis. 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 electroretinogram 90% Abnormality of eye movement 90% Cataract 90% Chorioretinal coloboma 90% Glaucoma 90% Chorioretinal atrophy - Cystic retinal degeneration - Progressive visual loss - Reduced amplitude of dark-adapted bright flash electroretinogram b-wave - Retinal atrophy - Retinal detachment - Retinoschisis - X-linked 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. + GARD + Juvenile retinoschisis
What causes Juvenile retinoschisis ?
What causes juvenile retinoschisis? Mutations in the RS1 gene cause most cases of juvenile retinoschisis. The RS1 gene provides instructions for producing a protein called retinoschisin, which is found in the retina. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina, perhaps playing a role in cell adhesion (the attachment of cells together). RS1 gene mutations lead to a reduced amount or complete absence of retinoschisin, which can cause tiny splits (schisis) or tears to form in the retina. This damage often forms a "spoke-wheel" pattern in the macula, which can be seen during an eye examination. In about half of individuals, these abnormalities are seen in the area of the macula, affecting visual acuity. In the other half, the sides of the retina are affected, resulting in impaired peripheral vision. Some individuals with juvenile retinoschisis do not have a mutation in the RS1 gene. In these individuals, the cause of the disorder is unknown. + GARD + Juvenile retinoschisis
Is Juvenile retinoschisis inherited ?
How is juvenile retinoschisis inherited? Juvenile retinoschisis is inherited in an x-linked recessive pattern. The gene associated with this condition is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one mutated copy of the gene (mutation) in each cell is called a carrier. She can pass on the mutation, but usually does not experience signs and symptoms of the condition. Carrier women have a 50% chance of passing the mutation to their children, males who inherit the mutation will be affected; females who inherit the mutation will be carriers and will nearly always have normal vision. Carrier testing for at-risk female relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutation in the family is known. + GARD + Juvenile retinoschisis
What are the treatments for Juvenile retinoschisis ?
What treatment is available for juvenile retinoschisis? There is no specific treatment for juvenile retinoschisis. Low vision services are designed to benefit those whose ability to function is compromised by impaired vision. Public school systems are mandated by federal law to provide appropriate education for children who have vision impairment. Surgery may be required to address the infrequent complications of vitreous hemorrhage and retinal detachment. Affected individuals should avoid high-contact sports and other activities that can cause head trauma to reduce risk of retinal detachment and vitreous hemorrhage. + GARD + Juvenile retinoschisis
What are the symptoms of Distal myopathy with vocal cord weakness ?
What are the signs and symptoms of Distal myopathy with vocal cord weakness? The Human Phenotype Ontology provides the following list of signs and symptoms for Distal myopathy with vocal cord weakness. 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) Dementia 5% Distal sensory impairment 5% Abnormal lower motor neuron morphology - Abnormal upper motor neuron morphology - Abnormality of the nasopharynx - Adult onset - Amyotrophic lateral sclerosis - Aspiration - Autosomal dominant inheritance - Bowing of the vocal cords - Bulbar palsy - Bulbar signs - Decreased nerve conduction velocity - Distal muscle weakness - Dysarthria - Dysphagia - Elevated serum creatine phosphokinase - Hoarse voice - Hyperreflexia - Respiratory insufficiency due to muscle weakness - Rimmed vacuoles - Shoulder girdle muscle weakness - 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. + GARD + Distal myopathy with vocal cord weakness
What is (are) Freeman Sheldon syndrome ?
Freeman Sheldon syndrome is an inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. Freeman-Sheldon syndrome can be inherited as an autosomal dominant or autosomal recessive genetic trait. However, most cases occur randomly with no apparent cause (sporadically). + GARD + Freeman Sheldon syndrome
What are the symptoms of Freeman Sheldon syndrome ?
What are the signs and symptoms of Freeman Sheldon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Freeman Sheldon 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 teeth 90% Camptodactyly of finger 90% Chin dimple 90% Hypertelorism 90% Limitation of joint mobility 90% Narrow mouth 90% Scoliosis 90% Talipes 90% Trismus 90% Ulnar deviation of finger 90% Underdeveloped nasal alae 90% Wide nasal bridge 90% Abnormality of the nares 50% Cryptorchidism 50% Deeply set eye 50% Hearing impairment 50% Long philtrum 50% Malignant hyperthermia 50% Neurological speech impairment 50% Prenatal movement abnormality 50% Ptosis 50% Short stature 50% Strabismus 50% Intellectual disability 31% Absent palmar crease 7.5% Hernia 7.5% Oligohydramnios 7.5% Polyhydramnios 7.5% Abnormal auditory evoked potentials - Abnormality of the skin - Adducted thumb - Autosomal dominant inheritance - Autosomal recessive inheritance - Blepharophimosis - Breech presentation - Camptodactyly - Cerebellar atrophy - Chin with H-shaped crease - Epicanthus - Failure to thrive - Fever - Flat face - Flexion contracture of toe - High palate - Hip contracture - Hip dislocation - Hypoplasia of the brainstem - Inguinal hernia - Joint contracture of the hand - Knee flexion contracture - Kyphoscoliosis - Malar flattening - Mandibular prognathia - Mask-like facies - Microcephaly - Muscle weakness - Nasal speech - Postnatal growth retardation - Prominent forehead - Rocker bottom foot - Seizures - Short neck - Short nose - Shoulder flexion contracture - Small for gestational age - Spina bifida occulta - Talipes equinovarus - Telecanthus - Ulnar deviation of the hand or of fingers of the hand - Whistling appearance - 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. + GARD + Freeman Sheldon syndrome
How to diagnose Freeman Sheldon syndrome ?
How is Freeman Sheldon syndrome diagnosed? Freeman Sheldon syndrome may be suspected based on medical history and physical examination which reveal characteristic features such as a small mouth, flat mask-like face, club feet, joint contractures, and under-development of the cartilage of the nose. A definitive diagnosis can be made through clinical genetic testing. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options. + GARD + Freeman Sheldon syndrome
What is (are) Steatocystoma multiplex ?
Steatocystoma multiplex is a condition characterized by numerous skin cysts that tend to develop during puberty. Cysts most often develop on the chest, upper arms and face, but may develop all over the body in some cases. The cysts may become inflamed and cause scarring when they heal. The condition is thought to be caused by mutations in the KRT17 gene and appears to be inherited in an autosomal dominant manner. Some researchers have suggested that the condition may be a mild variant of pachyonychia congenita type 2. Treatment may include minor surgery to remove cysts and oral antibiotics or oral isotretinoin to reduce inflammation. + GARD + Steatocystoma multiplex
What are the symptoms of Steatocystoma multiplex ?
What are the signs and symptoms of Steatocystoma multiplex? Signs and symptoms of steatocystoma multiplex include multiple cysts on the skin. The cysts are often 1 to 2 centimeter wide. They frequently occur on the trunk of the body, upper arms, legs, and face; however, they can develop on other parts of the body as well.The cysts are typically filled with a yellowish to white, oily fluid, and occasionally have hair within them. The cysts can become infected and may cause pain and scarring. The Human Phenotype Ontology provides the following list of signs and symptoms for Steatocystoma multiplex. 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) Adenoma sebaceum 90% Nephrolithiasis 7.5% Autosomal dominant inheritance - Steatocystoma multiplex - 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. + GARD + Steatocystoma multiplex
What causes Steatocystoma multiplex ?
What causes steatocystoma multiplex? Mutations in a gene called keratin 17 (KRT17) have been identified in some individuals with inherited steatocystoma multiplex. In these families the condition is inherited in an autosomal dominant fashion. In other cases the condition occurs sporadically. This may mean that it is due to a gene mutation that was not inherited, but occurred for the first time in the affected individual. A sporadic condition may also be non-genetic and occur by chance, in which case it is not likely to recur in a family.  In many sporadic cases of steatocystoma multiplex, mutations in the KRT17 gene have not been identified. Cases of steatocystoma multiplex have also been reported in association with pachyonychia congenita, acrokeratosis verruciformis, hypertrophic lichen planus, hypohidrosis, hidradenitis suppurativa, and natal teeth. + GARD + Steatocystoma multiplex
What are the treatments for Steatocystoma multiplex ?
How might steatocystoma multiplex be treated? Treatment options for steatocystoma multiplex are limited and have had varying degrees of success. The most effective treatment method is thought to be removal of cysts by surgery.  However, cosmetic concerns, time, cost, and pain need to be considered because affected individuals often have multiple cysts.  In many cases, small incisions (cuts into the skin) allow the cyst and its contents to be removed through the opening.  Other treatment options include medications such as oral isotretinoin to temporarily shrink the cysts and reduce inflammation or oral antibiotics to reduce redness and swelling.  Other procedures may include draining cysts through a procedure called aspiration, liquid nitrogen cryotherapy, dermabrasion, and carbon dioxide laser therapy. In a recently published case study, the authors present a case in which an individual with steatocystomas on the abdomen and lower chest showed substantial clearance of cysts after two laser treatment sessions. Future studies with a larger patient population will be helpful to evaluate this noninvasive treatment option and determine ideal treatment settings, number of treatments, and interval between treatments. This may prove to be an option for individuals with numerous cysts, in whom removal and drainage is not a realistic choice and other treatments have failed to improve the condition. + GARD + Steatocystoma multiplex
What is (are) Tetrahydrobiopterin deficiency ?
Tetrahydrobiopterin (BH4) deficiency is a neurological condition caused by an inborn error of metabolism. BH4 is a substance in the body that enhances the action of other enzymes. Deficiency of BH4 leads to abnormally high blood levels of the amino acid phenylalanine, and low levels of certain neurotransmitters. Signs and symptoms can range from very mild to severe. Affected newborns appear normal at birth, but may begin to experience neurological symptoms such as abnormal muscle tone; poor sucking and coordination; seizures; and delayed motor development. Without early, appropriate treatment, the condition can cause permanent intellectual disability and even death. BH4 deficiency is caused by mutations in any one of several genes including the GCH1, PCBD1, PTS, and QDPR genes. It is inherited in an autosomal recessive manner.Treatment depends on the genetic cause and severity, and may include a low phenylalanine diet; oral BH4 supplementation; and neurotransmitter replacement. + GARD + Tetrahydrobiopterin deficiency