bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Femoral facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Femoral facial 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 femur 90% Cleft palate 90% Abnormality of the fibula 50% Abnormality of the hip bone 50% Abnormality of the sacrum 50% Abnormality of the tibia 50% Limb undergrowth 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Maternal diabetes 50% Preaxial foot polydactyly 50% Short nose 50% Short stature 50% Talipes 50% Thin vermilion border 50% Upslanted palpebral fissure 50% Vertebral segmentation defect 50% Abnormal localization of kidney 7.5% Abnormality of the ribs 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cryptorchidism 7.5% Hernia of the abdominal wall 7.5% Long penis 7.5% Radioulnar synostosis 7.5% Scoliosis 7.5% Sprengel anomaly 7.5% Strabismus 7.5% Ventriculomegaly 7.5% Abnormal facial shape - Abnormality of the pinna - Abnormality of the renal collecting system - Absent vertebrae - Aplasia/hypoplasia of the femur - Dysplastic sacrum - Esotropia - Gastroesophageal reflux - Hemivertebrae - Humeroradial synostosis - Hypoplastic acetabulae - Hypoplastic labia majora - Inguinal hernia - Limited elbow movement - Limited shoulder movement - Low-set ears - Micropenis - Missing ribs - Polycystic kidney dysplasia - Preaxial hand polydactyly - Pulmonic stenosis - Renal agenesis - Rib fusion - Short fifth metatarsal - Short fourth metatarsal - Short humerus - Short third metatarsal - Smooth philtrum - Sporadic - Talipes equinovarus - Toe syndactyly - Truncus arteriosus - Underdeveloped nasal alae - Ventricular septal defect - 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.
Is femoral facial syndrome inherited? The vast majority of cases of femoral facial syndrome (FFS) have been sporadic, not inherited. When a condition is sporadic, it means that it occurs in an individual who has no history of the condition in his/her family. Occurrence in more than one family member has been reported in three cases, but no sibling recurrences have been reported. Maternal diabetes has been recognized as a major factor causing FFS in more than 20% of the reported cases. The circumstances of the reported cases in the literature support non-genetic causes of FFS, such as teratogenic exposure. It is theoretically possible that the cause could sometimes be a new gene mutation occurring in the affected individual, or autosomal dominant inheritance with reduced penetrance.
Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresive drugs may help manage the symptoms.
How might mixed connective tissue disease be treated? There is currently no cure for mixed connective tissue disease (MCTD). However, treatments can help manage symptoms of the condition. For example, medications such as over-the-counter or prescription nonsteroidal anti-inflammatory drugs may help with inflammation and pain of the muscles or joints. Glucocorticoids may be recommended in certain situations, such as during disease flares or when complications arise (e.g., aseptic meningitis, myositis, pleurisy, pericarditis, and myocarditis). Some people with MCTD require long term use of immunosuppressant medications. Additional medications may be prescribed based on the signs and symptoms present in each person. For example, if a person with MCTD has developed symptoms similar to those of lupus, medications typically prescribed for people with lupus may be recommended. For additional information about the treatment of MCTD, visit the Mayo Foundation for Medical Education and Research Web site.
What are the signs and symptoms of osteochondritis dissecans? The signs and symptoms of osteochondritis dissecans vary from person to person. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience the following if the cartilage and bone travel into the joint space: Pain, swelling and/or tenderness Joint popping Joint weakness Decreased range of motion Although osteochondritis dissecans can develop in any joint of the body, the knee, ankle and elbow are most commonly affected. Most people only develop the condition in a single joint.
What are the signs and symptoms of Pseudoainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoainhum. 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) Amniotic constriction ring - 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.
Schindler disease is an inherited condition that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type 1, also called the infantile type, is the most severe form. Babies with this condition appear healthy a birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired. As the condition progresses, affected individuals develop blindness and seizures, and eventually lose awareness of their surroundings and become unresponsive. People with this form of the condition usually don't survive past early childhood. Schindler disease type 1 is caused by mutations in the NAGA gene. The condition follows an autosomal recessive pattern of inheritance.
What are the signs and symptoms of Schindler disease type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Schindler disease type 1. 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 pyramidal signs 90% Autism 90% Cataract 90% Cognitive impairment 90% Developmental regression 90% Hearing impairment 90% Hypertonia 90% Muscle weakness 90% Seizures 90% Strabismus 90% Visual impairment 90% Hemiplegia/hemiparesis 50% Hepatomegaly 50% Hyperkeratosis 50% Hypertrophic cardiomyopathy 50% Involuntary movements 50% Muscular hypotonia 50% Nystagmus 50% Optic atrophy 50% Telangiectasia of the skin 50% Vertigo 50% Aplasia/Hypoplasia of the cerebellum 7.5% Lymphedema 7.5% Paresthesia 7.5% Autosomal recessive inheritance - Cortical visual impairment - Generalized amyotrophy - Hyperreflexia - Increased urinary O-linked sialopeptides - Infantile onset - Intellectual disability, severe - Myoclonus - Osteopenia - 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.
What causes Schindler disease type 1? Schindler disease type 1 is caused by mutations in the NAGA gene. This gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase.This enzyme works in the lysosomes  (compartments within cells that digest and recycle materials) to help break down complexes called glycoproteins and glycolipids (sugar molecules attached to certain proteins and fats). More specifically, alpha-N-acetylgalactosaminidase helps remove a molecule called alpha-N-acetylgalactosamine from sugars in these complexes. Mutations in the NAGA gene interfere with the ability of the alpha-N-acetylgalactosaminidase enzyme to perform its role in breaking down glycoproteins and glycoliipids. These substances accumulate in the lysosomes and cause cells to malfunction and eventually die. Cell damage in the nervous system and other tissues and organs of the body leads to the signs and symptoms of Schindler disease type 1.
What are the signs and symptoms of Dyssynergia cerebellaris myoclonica? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyssynergia cerebellaris myoclonica. 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) Generalized seizures 7.5% Abnormality of the dentate nucleus - Abnormality of the mitochondrion - Ataxia - Autosomal dominant inheritance - Intention tremor - Myoclonus - Pallidal degeneration - Ragged-red muscle fibers - 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.
What are the signs and symptoms of Oral submucous fibrosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Oral submucous fibrosis. 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 oral cavity 90% Abnormality of the pharynx 90% Cheilitis 90% Trismus 90% Flexion contracture 50% 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.
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. The disorder may become apparent in the first few months of life, or later in childhood. The more severe form of the disorder is called 'profound biotinidase deficiency' and may cause delayed development, seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. The milder form is called 'partial biotinidase deficiency'; without treatment, affected children may experience hypotonia, skin rashes, and hair loss. In some cases, these symptoms only appear during illness, infection, or other times of stress on the body. Biotinidase deficiency is caused by mutations in the BTD gene and is inherited in an autosomal recessive manner. Lifelong treatment with biotin can prevent symptoms and complications from occurring or improve them if they have already developed.
What are the signs and symptoms of Biotinidase deficiency? The signs and symptoms of biotinidase deficiency typically appear within the first few months of life, but the age of onset varies. Children with profound biotinidase deficiency, the more severe form of the condition, may have seizures, weak muscle tone (hypotonia), breathing problems, and delayed development. If left untreated, the disorder can lead to hearing loss, eye abnormalities and loss of vision, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Immediate treatment and lifelong management with biotin supplements can prevent many of these complications. Partial biotinidase deficiency is a milder form of this condition. Affected children may experience hypotonia, skin rashes, and hair loss, but these problems may appear only during illness, infection, or other times of stress on the body. The Human Phenotype Ontology provides the following list of signs and symptoms for Biotinidase 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) Muscular hypotonia 90% Seizures 90% Alopecia 50% Dry skin 50% Hearing impairment 50% Incoordination 50% Inflammatory abnormality of the eye 50% Optic atrophy 50% Skin rash 50% Abnormality of retinal pigmentation 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Hypertonia 7.5% Muscle weakness 7.5% Myopia 7.5% Reduced consciousness/confusion 7.5% Respiratory insufficiency 7.5% Skin ulcer 7.5% Visual field defect 7.5% Apnea - Ataxia - Autosomal recessive inheritance - Conjunctivitis - Diarrhea - Diffuse cerebellar atrophy - Diffuse cerebral atrophy - Feeding difficulties in infancy - Hepatomegaly - Hyperammonemia - Lethargy - Metabolic ketoacidosis - Organic aciduria - Recurrent skin infections - Seborrheic dermatitis - Sensorineural hearing impairment - Splenomegaly - Tachypnea - Visual loss - 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.
What are the signs and symptoms of Mesomelic dwarfism cleft palate camptodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dwarfism cleft palate camptodactyly. 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 hip bone 90% Camptodactyly of finger 90% Cleft palate 90% Elbow dislocation 90% Micromelia 90% Sacrococcygeal pilonidal abnormality 90% Abnormal form of the vertebral bodies 50% Abnormal lung lobation 50% Abnormality of epiphysis morphology 50% Abnormality of the metacarpal bones 50% Abnormality of the metaphyses 50% Aplasia/Hypoplasia of the lungs 50% Low-set, posteriorly rotated ears 50% Malar flattening 50% Overfolded helix 50% Thin vermilion border 50% Autosomal recessive inheritance - Bowing of the arm - Bowing of the legs - Mesomelic arm shortening - Mesomelic leg shortening - Retrognathia - 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.
Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have short stature; short arms and legs (especially the forearm and lower leg); and a narrow chest with short ribs. Other signs and symptoms may include polydactyly; missing and/or malformed nails; dental abnormalities; and congenital heart defects. More than half of people affected by Ellis-van Creveld syndrome have changes (mutations) in the EVC or EVC2 genes; the cause of the remaining cases is unknown. The condition is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
What are the signs and symptoms of Ellis-Van Creveld syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ellis-Van Creveld 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 fingernails 90% Abnormality of the heart valves 90% Atria septal defect 90% Complete atrioventricular canal defect 90% Genu valgum 90% Hypoplastic toenails 90% Limb undergrowth 90% Narrow chest 90% Short distal phalanx of finger 90% Short thorax 90% Aplasia/Hypoplasia of the lungs 50% Cryptorchidism 50% Intrauterine growth retardation 50% Microdontia 50% Situs inversus totalis 50% Strabismus 50% Ventricular septal defect 50% Abnormal hair quantity 7.5% Abnormality of bone marrow cell morphology 7.5% Abnormality of female internal genitalia 7.5% Acute leukemia 7.5% Cognitive impairment 7.5% Cubitus valgus 7.5% Delayed eruption of teeth 7.5% Delayed skeletal maturation 7.5% Emphysema 7.5% Intellectual disability 7.5% Renal hypoplasia/aplasia 7.5% Synostosis of carpal bones 7.5% Thin vermilion border 7.5% Abnormality of the alveolar ridges - Acetabular spurs - Autosomal recessive inheritance - Capitate-hamate fusion - Cleft upper lip - Common atrium - Cone-shaped epiphyses of phalanges 2 to 5 - Dandy-Walker malformation - Ectodermal dysplasia - Epispadias - Horizontal ribs - Hypodontia - Hypoplastic iliac wing - Hypospadias - Nail dysplasia - Natal tooth - Neonatal short-limb short stature - Pectus carinatum - Postaxial foot polydactyly - Postaxial hand polydactyly - Short long bone - Short ribs - 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.