fenil210/Med-Lamma huggingface dataset:
How to diagnose Roberts syndrome ?
How is Roberts syndrome diagnosed? The diagnosis of Roberts syndrome is suspected in individuals with the following: Prenatal growth delay ranging from mild to severe. Average birth length and weight is typically below the third percentile in most affected infants. Limb malformations including bilateral, symmetric tetraphocomelia (phocomelia of all 4 limbs) or hypomelia (underdevelopment of the limbs) caused by mesomelic shortening (shortening of the middle part of the limb). Upper limbs are typically more severely affected than lower limbs. Other limb malformations include oligodactyly with thumb aplasia (lack of formation) or hypoplasia (underdevelopment), syndactyly, clinodactyly, and elbow and knee flexion contractures (inability to fully straighten the arms and legs). Craniofacial abnormalities including bilateral cleft lip and/or palate, micrognathia (small jaw), hypertelorism (widely-spaced eyes), exophthalmos (bulging eyes), downslanting palpebral fissures, malar hypoplasia (underdeveloped cheek bones), hypoplastic nasal alae, and ear malformations. The diagnosis of Roberts syndrome relies on a cytogenetic blood test of individuals with the above features. Cytogenetic testing would show the characteristic chromosomal abnormalities that are present in individuals with the condition. Is genetic testing available for Roberts syndrome? Genetic testing is currently available for Roberts syndrome. GeneTests lists the names of laboratories that are performing genetic testing for Roberts syndrome. To view the contact information for the clinical laboratories conducting testing click here. To access the contact information for the research laboratories performing genetic testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. + GARD + Roberts syndrome
What is (are) Autosomal dominant neuronal ceroid lipofuscinosis 4B ?
Autosomal dominant neuronal ceroid lipofuscinosis 4B is a form of adult neuronal ceroid lipofuscinosis, which is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. Affected people generally experience behavioral abnormalities, dementia; difficulties with muscle coordination (ataxia); and involuntary movements such as tremors or tics. It can be caused by changes (mutations) in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner. Treatment options are limited to therapies that can help relieve some of the symptoms. + GARD + Autosomal dominant neuronal ceroid lipofuscinosis 4B
What are the symptoms of Autosomal dominant neuronal ceroid lipofuscinosis 4B ?
What are the signs and symptoms of Autosomal dominant neuronal ceroid lipofuscinosis 4B? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant neuronal ceroid lipofuscinosis 4B. 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) Adult onset - Ataxia - Auditory hallucinations - Autosomal dominant inheritance - Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - Dementia - Depression - Fingerprint intracellular accumulation of autofluorescent lipopigment storage material - Granular osmiophilic deposits (GROD) in cells - Increased neuronal autofluorescent lipopigment - Myoclonus - Parkinsonism - Rapidly progressive - Rectilinear intracellular accumulation of autofluorescent lipopigment storage material - Seizures - Visual hallucinations - 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 + Autosomal dominant neuronal ceroid lipofuscinosis 4B
What is (are) Pachydermoperiostosis ?
Pachydermoperiostosis is a rare disorder characterized by clubbing of the fingers and toes; thickening of the skin of the face (pachyderma); excessive sweating (hyperhidrosis); and new bone formation associated with joint pain. Other features may include congenital heart disease and delayed closure of fontanelles. This condition typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly for about ten years. Both autosomal dominant and autosomal recessive inheritance has been reported. Mutations in the HPGD gene have been found in those with the autosomal recessive form of this condition. + GARD + Pachydermoperiostosis
What are the symptoms of Pachydermoperiostosis ?
What are the signs and symptoms of Pachydermoperiostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pachydermoperiostosis. 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 cortical bone morphology 90% Abnormality of epiphysis morphology 90% Abnormality of the fontanelles or cranial sutures 90% Bone pain 90% Osteomyelitis 90% Seborrheic dermatitis 90% Abnormal hair quantity 50% Abnormality of the fingernails 50% Abnormality of the knees 50% Abnormality of the scalp 50% Abnormality of the tibia 50% Acne 50% Arthralgia 50% Arthritis 50% Clubbing of toes 50% Coarse facial features 50% Joint swelling 50% Limitation of joint mobility 50% Osteoarthritis 50% Osteolysis 50% Ptosis 50% Abnormality of the gastric mucosa 7.5% Anemia 7.5% Aseptic necrosis 7.5% Cerebral palsy 7.5% Deviation of finger 7.5% Gastrointestinal hemorrhage 7.5% Genu varum 7.5% Growth hormone excess 7.5% Gynecomastia 7.5% Hepatomegaly 7.5% Impaired temperature sensation 7.5% Malabsorption 7.5% Neoplasm of the lung 7.5% Neoplasm of the skin 7.5% Palmoplantar keratoderma 7.5% Reduced bone mineral density 7.5% Scoliosis 7.5% Short palm 7.5% Splenomegaly 7.5% Arthropathy - Autosomal dominant inheritance - Autosomal recessive inheritance - Clubbing - Clubbing of fingers - Congenital onset - Cutis gyrata of scalp - Disproportionate tall stature - Eczematoid dermatitis - High palate - Hyperhidrosis - Large fontanelles - Long clavicles - Osteolytic defects of the phalanges of the hand - Osteopenia - Osteoporosis - Palmoplantar hyperkeratosis - Patent ductus arteriosus - Pectus excavatum - Periosteal thickening of long tubular bones - Redundant skin - Thickened calvaria - Thickened skin - Wormian bones - 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 + Pachydermoperiostosis
What are the treatments for Pachydermoperiostosis ?
How might pachydermoperiostosis be treated? Treatment for pachydermoperiostosis mainly focuses on the specific signs and symptoms present in each individual. Bone and joint pain may be treated with nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids or colchicine. A vagotomy, a surgical procedure in which certain branches of the vagus nerve are cut, may in some instances improve joint pain and swelling. Skin-related symptoms may be treated with retinoids. Plastic surgery may be performed to improve facial appearance in some individuals. Surgery may also be performed to treat clubbing of fingers and/or toes. + GARD + Pachydermoperiostosis
What are the symptoms of Aortic arch anomaly - peculiar facies - intellectual disability ?
What are the signs and symptoms of Aortic arch anomaly - peculiar facies - intellectual disability? The Human Phenotype Ontology provides the following list of signs and symptoms for Aortic arch anomaly - peculiar facies - intellectual disability. 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) Broad forehead 90% Carious teeth 90% Cognitive impairment 90% Convex nasal ridge 90% Downturned corners of mouth 90% Facial asymmetry 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Narrow mouth 90% Overriding aorta 90% Prominent nasal bridge 90% Triangular face 90% Arteriovenous malformation 50% Microcephaly 50% Abnormality of the hip bone 7.5% Behavioral abnormality 7.5% Genu varum 7.5% Hypoplasia of the zygomatic bone 7.5% Intrauterine growth retardation 7.5% Mandibular prognathia 7.5% Muscular hypotonia 7.5% Abnormal facial shape - Autosomal dominant inheritance - Intellectual disability - Right aortic arch with mirror image branching - 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 + Aortic arch anomaly - peculiar facies - intellectual disability
What are the symptoms of Bardet-Biedl syndrome 7 ?
What are the signs and symptoms of Bardet-Biedl syndrome 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 7. 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 kidney 95% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - 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 + Bardet-Biedl syndrome 7
What is (are) Cholesteatoma ?
Cholesteatoma is a type of skin cyst located in the middle ear. It can be congenital (present from birth), but it more commonly occurs as a complication of chronic ear infection. The hallmark symptom is a painless discharge from the ear. Hearing loss, dizziness, and facial muscle paralysis are rare but can result from continued cholesteatoma growth. Surgery can stop infections and prevent complications. + GARD + Cholesteatoma
What are the symptoms of Cholesteatoma ?
What symptoms are associated with cholesteatoma? Early symptoms may include drainage from the ear, sometimes with a foul odor. As the cholesteatoma cyst or sac enlarges, it can lead to a full feeling or pressure in the ear, hearing loss, dizziness and pain, numbness or muscle weakness on one side of the face. On examination, the ear drum (tympanic membrane) appears abnormal. In rare cases, a cholesteatoma may erode through the tegmen, allowing an epidural abscess to form which could lead to a more serious brain infection. + GARD + Cholesteatoma
What causes Cholesteatoma ?
What causes cholesteatoma? A cholesteatoma usually occurs because of poor eustachian tube function in conjunction with infection in the middle ear. Negative pressure within the middle ear pulls a part of the eardrum the wrong way, creating a sac or cyst that fills with old skin cells and other waste material. As the cyst gets bigger, some of the middle ear bones break down, affecting hearing. A rare congenital form of cholesteatoma (one present at birth) can occur in the middle ear and elsewhere, such as in the nearby skull bones. + GARD + Cholesteatoma
What are the treatments for Cholesteatoma ?
How might cholesteatoma be treated? An examination by an otolaryngologist - a doctor who specializes in head and neck conditions -  can confirm the presence of a cholesteatoma. Initial treatment may consist of a careful cleaning of the ear, antibiotics, and eardrops. Therapy aims to stop drainage in the ear by controlling the infection. Large or complicated cholesteatomas may require surgical treatment to protect the patient from serious complications. + GARD + Cholesteatoma
What is (are) Schimke immunoosseous dysplasia ?
Schimke immunoosseous dysplasia (SIOD) is a condition characterized by short stature, kidney disease, and a weakened immune system.   Growth failure is often the first sign of this condition.  Other features are usually detected in the evaluation for growth failure or in the following years.  The severity of SIOD ranges from an infantile or severe early-onset form to a juvenile or milder late-onset form.  Complications of the severe form of SIOD can include strokes, severe opportunistic infections, bone marrow failure, and kidney failure that can be life-threatening early in life. People with milder disease have survived to adulthood if their kidney disease is managed. This condition is inherited in an autosomal recessive pattern.  Mutations in the SMARCAL1 gene increase the risk to develop Schimke immunoosseous dysplasia.  However, in order for people with SMARCAL1 gene mutations to develop symptoms of Schimke immunoosseous dysplasia, other currently unknown genetic or environmental factors must also be present. + GARD + Schimke immunoosseous dysplasia
How to diagnose Schimke immunoosseous dysplasia ?
How is Schimke immunoosseous dysplasia diagnosed? The diagnosis of SIOD is made on clinical findings.  The most definitive diagnostic findings are skeletal dysplasia (spondyloepiphyseal dysplasia), renal dysfunction (urinary protein loss), T lymphocyte deficiency, characteristic facial features, and hyperpigmented macules.  DNA testing for mutations in SMARCAL1 is available on a clinical basis. + GARD + Schimke immunoosseous dysplasia
What are the treatments for Schimke immunoosseous dysplasia ?
How might Schimke immunoosseous dysplasia be treated? Treatment of Schimke immunoosseous dysplasia (SIOD) is based on addressing individual symptoms as they develop.  Renal transplantation can treat the renal disease, and bone marrow transplantation has been done to treat the immunodeficiency.  Blood thinning medications can transiently improve blood flow through the atherosclerotic arteries but do not provide enduring relief from cerebral ischemia.  Treatment with acyclovir and some antibacterial agents has been beneficial for preventing of reducing the frequency of opportunistic infections.  More detailed information about treatment for SIOD can be found on the GeneReview's Web site. Click on the GeneReview link to read more. + GARD + Schimke immunoosseous dysplasia
What is (are) Hydranencephaly ?
Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid (CSF). Affected infants may appear and act normal at birth, but irritability and hypertonia often develop within a few weeks. Other signs and symptoms may include seizures, hydrocephalus, visual impairment, lack of growth, deafness, blindness, paralysis, and intellectual disabilities. Prognosis is typically poor with many affected children dying before one year of age. In rare cases, children may survive for several years or more. It has been suspected to be an inherited condition, although some researchers believe it may be caused by prenatal blockage of the carotid artery where it enters the cranium. Treatment is generally symptomatic and supportive; hydrocephalus may be treated with a shunt. + GARD + Hydranencephaly
What are the treatments for Hydranencephaly ?
How might hydranencephaly be treated? Unfortunately, there is no definitive treatment for hydranencephaly. Management of the condition typically focuses on the specific signs and symptoms present in the affected individual and is mostly supportive. Hydrocephalus (the buildup of too much cerebral spinal fluid in the brain) may be treated with a shunt (a surgically implanted tube that helps to drain fluid from the brain). + GARD + Hydranencephaly
What are the symptoms of Campomelia Cumming type ?
What are the signs and symptoms of Campomelia Cumming type? The Human Phenotype Ontology provides the following list of signs and symptoms for Campomelia Cumming 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) Abnormality of the ribs 90% Bowing of the long bones 90% Brachydactyly syndrome 90% Cleft palate 90% Clubbing of toes 90% Cystic hygroma 90% Dolichocephaly 90% Micromelia 90% Multicystic kidney dysplasia 90% Oligohydramnios 90% Polycystic kidney dysplasia 90% Prematurely aged appearance 90% Skeletal dysplasia 90% Abnormal vertebral ossification 50% Aplasia/Hypoplasia of the lungs 50% Hepatomegaly 50% Hydrops fetalis 50% Sacrococcygeal pilonidal abnormality 50% Abnormality of the intestine 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Coarse facial features 7.5% Lymphedema 7.5% Autosomal recessive inheritance - Pancreatic cysts - Polycystic liver disease - Polysplenia - 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. + GARD + Campomelia Cumming type
What is (are) Tay-Sachs disease ?
Tay-Sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells. Tay-Sachs disease is inherited in an autosomal recessive pattern. + GARD + Tay-Sachs disease