bowang0911/MedQuAD huggingface dataset:
Cardiofaciocutaneous (CFC) syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), face (facio-), and the skin and hair (cutaneous). People with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome. The three syndromes are part of a group of related conditions called the RASopathies and  they are distinguished by their genetic cause and specific patterns of signs and symptoms; however, it can be difficult to tell these conditions apart in infancy. The CFC syndroeme is caused by mutations in the BRAF (75%-80% of the cases), MAP2K1,  MAP2K2 or KRAS gene (in fewer than 5% of the cases). CFC syndrome is an autosomal dominant condition, however, most cases have resulted from new gene mutations and have occurred in people with no history of the disorder in their family. Treatment is symptomatic and may include surgery to correct the heart problems.
What are the signs and symptoms of Microsomia hemifacial radial defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Microsomia hemifacial radial defects. 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 radius 90% Aplasia/Hypoplasia of the thumb 90% Facial asymmetry 90% Atresia of the external auditory canal 50% Cognitive impairment 50% Complete atrioventricular canal defect 50% Preauricular skin tag 50% Renal hypoplasia/aplasia 50% Sacrococcygeal pilonidal abnormality 50% Sensorineural hearing impairment 50% Short stature 50% Vertebral segmentation defect 50% Abnormality of the genital system 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the lungs 7.5% Cleft eyelid 7.5% Cleft palate 7.5% Conductive hearing impairment 7.5% Ectopic anus 7.5% Maternal diabetes 7.5% Non-midline cleft lip 7.5% Preaxial hand polydactyly 7.5% Triphalangeal thumb 7.5% Wide mouth 7.5% Autosomal dominant inheritance - Complete duplication of thumb phalanx - Microtia - Preauricular pit - Short mandibular rami - 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.
Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body. It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immune system to sunlight and phototherapy.
How might guttate psoriasis be treated? The goal of treatment is to control the symptoms and prevent secondary infections. Mild cases of guttate psoriasis are usually treated at home. The following may be recommended: Cortisone (anti-itch and anti-inflammatory) cream Dandruff shampoos (over-the-counter or prescription) Lotions that contain coal tar Moisturizers Prescription medicines containing vitamin D or vitamin A (retinoids) People with very severe guttate psoriasis may take medicines to suppress the body's immune system. These medicines include corticosteroids, cyclosporine, and methotrexate. Sunlight may help some symptoms go away. Care should be taken to avoid sunburn. Some people may choose to have phototherapy. Phototherapy is a medical procedure in which the skin is carefully exposed to ultraviolet light. Phototherapy may be given alone or after taking a drug that makes the skin more sensitive to light. More detailed information related to the treatment of psoriasis can be accessed through Medscape Reference. The National Psoriasis Foundation can also provide you with information on treatment.
Hennekam syndrome is a rare condition that affects the lymphatic system. Signs and symptoms of the condition are generally noticeable at birth and vary significantly from person to person, even within the same family. Affected people generally experience lymphangiectasia (lymphatic vessels that are abnormally expanded), lymphedema, and distinctive facial features (i.e. a flattened appearance to the middle of the face, puffy eyelids, widely spaced eyes, small ears, and a small mouth). Other common features include intellectual disability, growth delay, respiratory problems, camptodactyly (permanently bent fingers and toes) and cutaneous syndactyly (fusion of the skin between the fingers and toes). Hennekam syndrome is caused by changes (mutations) in the CCBE1 or FAT4 genes and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
A laryngeal cleft is a rare abnormality of the separation between the larynx, or voice box, and the esophagus. Normally, when the larynx develops, it is completely separate from the esophagus so swallowed foods go directly into the stomach. When a laryngeal cleft occurs, there is an opening between the larynx and the esophagus so food and liquid can pass through the larynx into the lungs. There are several different types of laryngeal clefts (Types I through IV), classified based on the extent of the clefting.
What are the signs and symptoms of Laryngeal cleft? The symptoms of laryngeal clefts range from mild stridor to significant difficulties with breathing and swallowing.  Severity of symptoms depends on the severity of the cleft.  Swallowing problems, a husky cry and feeding difficulties are common.  Feeding often causes stridor, coughing, choking, gagging, cyanosis, regurgitation, and frequent respiratory infections.  Many individuals with laryngeal clefts develop chronic lung disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Laryngeal cleft. 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) Laryngomalacia 90% Abnormality of the voice - Aspiration - Cyanosis - Laryngeal stridor - 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 laryngeal cleft? During fetal development, the trachea and esophagus begin as one tube.  They later separate when a wall of tissue known as the tracheoesophageal septum forms, dividing the original tube into the trachea and esophagus.  If the tracheoesophageal septum fails to form, the trachea and esophagus may remain open to each other or abnormally shaped, causing abnormalities such as a laryngeal cleft, tracheoesophageal fistula, or esophageal atresia.  Exactly why these abnormalities occur is unknown.
How might laryngeal cleft be treated? Medical and feeding therapies are often the first treatments for patients with laryngeal cleft (particularly type I and type II).[4126]  Prevention of gastroesophageal reflux is also important in all types of clefts. Type I clefts often correct themselves over time with growth.  During infancy, nursing in the upright position or thickening of formula may be necessary.  If these treatments are not enough, surgery may be recommended. Different surgical approaches have been proposed for the management of laryngeal cleft. The timing and approach of surgery may differ depending upon the severity of symptoms, associated abnormalities, and type of cleft.
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.
Multicentric reticulohistiocytosis is a disease that is characterized by the presence of papules and nodules and associated with arthritis mutilans. The disease can involve the skin, the bones, the tendons, the muscles, the joints, and nearly any other organ (e.g., eyes, larynx, thyroid, salivary glands, bone marrow, heart, lung, kidney, liver, gastrointestinal tract). In the majority of cases, the cause of multicentric reticulohistiocytosis is unknown; however, it has been associated with an underlying cancer in about one fourth of cases, suggesting that it may be a paraneoplastic syndrome.
What are the signs and symptoms of Multicentric reticulohistiocytosis? The main symptoms of multicentric reticulohistiocytosis are arthritis and red to purple skin nodules varying in size from 1 to 10 mm. The nodules can be found on any part of the body but tend to concentrate on the face and hands and decrease in number from head to toe. The arthritis is most often symmetrical and polyarticular (affecting many joints). Unlike adult rheumatoid arthritis, it does not spare the joints closest to the fingertips. It can be severely destructive, and in one third of cases it progresses to arthritis multilans. Further history reveals that approximately one third of patients complain of symptoms such as fever, weight loss, and malaise; less often, pericarditis and myositis are present. The clinical presentation of multicentric reticulohistiocytosis is insidious in onset and begins with arthritic complaints in approximately two thirds of patients.  It is potentially one of the most rapidly destructive forms of arthritis. Joint involvement remits and relapses, gradually worsening into a debilitating and permanent arthritis multilans.  The severity of the damage has been reported to be related to the age of onset; therefore, the earlier one has symptoms, the more severe the symptoms tend to be.  Like the associated arthritis, skin lesions tend to wax and wane until the disease spontaneously resolves, but may leave permanent disfigurement. The Human Phenotype Ontology provides the following list of signs and symptoms for Multicentric reticulohistiocytosis. 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 skin 90% Arthritis 90% Abnormality of temperature regulation 7.5% Decreased body weight 7.5% Muscle weakness 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.
How might multicentric reticulohistiocytosis be treated? Dermatologists and rheumatologists are often the types of specialists that oversee the treatment of patients with multicentric reticulohistiocytosis. Although no specific therapy has consistently been shown to improve multicentric reticulohistiocytosis, many different drugs have been used. For instance, therapy with non-steroidal anti-inflammatory agents (e.g., aspirin or ibuprofen) may help the arthritis. Systemic corticosteroids and/or cytotoxic agents, particularly cyclophosphamide, chlorambucil, or methotrexate, may affect the inflammatory response, prevent further joint destruction, and cause skin lesions to regress. Antimalarials (e.g., hydroxychloroquine and mefloquine) have also been used. Alendronate and other bisphosphonates have been reported to be effective in at least one patient and etanercept and infliximab have been effective in some.
Type 1 plasminogen deficiency is a genetic condition associated with chronic lesions in the pseudomembrane (tough, thick material) of the mucosa of the eye, mouth, nasopharynx, trachea, and female genital tract; decreased serum plasminogen activity; and decreased plasminogen antigen level. The lesions may be triggered by local injury and/or infection and often recur after removal of the lesion; they are caused by the deposition of fibrin (a protein involved in blood clotting) and by inflammation. The most common clinical finding is ligenous ('wood-like') conjunctivitis, a condition marked by redness and subsequent formation of pseudomembranes of part of the eye that progresses to white, yellow-white or red thick masses with a wood-like consistency that replace the normal mucosa. Hydrocephalus may be present at birth in a small number of individuals.
What are the signs and symptoms of Type 1 plasminogen deficiency? Type 1 plasminogen deficiency causes reduced levels of functional plasminogen. The rare inflammatory disease mainly affects the mucous membrances in different body sites. Although the symptoms and their severity may vary from person to person, the most common clinical manifestation is ligneous conjunctivitis, characterized by development of fibrin-rich, woodlike ('ligneous') pseudomembranous lesions. Involvement of the cornea may result in blindness. Other, less common manifestations are ligenous gingivitis, otitis media, ligneous bronchitis and pneumonia, involvement of the gastrointestinal or female genital tract, juvenile colloid milium of the skin (condition in which clear papules develop on sun-exposed areas of the skin), and congenital hydrocephalus. Although the condition is known to cause thrombotic events in mice, no reports of venous thrombosis in humans with the condition have been documented.[826] The Human Phenotype Ontology provides the following list of signs and symptoms for Type 1 plasminogen 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) Abnormality of the eye 90% Abnormality of the oral cavity 50% Abnormality of the intestine 7.5% Abnormality of the middle ear 7.5% Abnormality of the respiratory system 7.5% Dandy-Walker malformation 7.5% Hydrocephalus 7.5% Nephrolithiasis 7.5% Polycystic ovaries 7.5% Nephritis 5% Abnormality of metabolism/homeostasis - Abnormality of the cardiovascular system - Abnormality of the ear - Abnormality of the larynx - Abnormality of the skin - Autosomal recessive inheritance - Blindness - Cerebellar hypoplasia - Conjunctivitis - Duodenal ulcer - Gingival overgrowth - Gingivitis - Infantile onset - Macrocephaly - Periodontitis - Recurrent upper respiratory tract infections - 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.
How might type 1 plasminogen deficiency be treated? The treatment options available for type 1 plasminogen deficiency are few. However, some researchers have shown that the ligneous lesions can be reversed by plasminogen infusion, with changes occurring within 3 days and restored to normal after 2 weeks of treatment. Recurrence has been prevented by daily injections with plasminogen sufficient to achieve plasma concentrations to approximately 40% of the normal amount of plasminogen. Treatment with topical plasminogen has also been successful and resulted in dramatic improvement and complete resolution of the membranes. In some women, treatment with oral contraceptives have resulted in an increase in the levels of plasminogen and some resolution of the pseudomembrane.
Pyruvate dehydrogenase deficiency is metabolic disorder associated with abnormal function of the mitochondria in cells, thus depriving the body of energy. Progressive neurological symptoms usually start in infancy but may be evident at birth, or in later childhood; these symptoms may include developmental delay, intermittent ataxia, poor muscle tone (hypotonia), abnormal eye movements, or seizures. Severe lethargy, poor feeding, and tachypnea (rapid breathing) commonly occur, especially during times of illness, stress, or high carbohydrate intake. Childhood-onset forms of the condition are often associated with intermittent periods of illness but normal neurological development. Prognosis is difficult to predict due to the many causes of the condition, but in most cases of neonatal and infantile onset, prognosis is described as poor. The most common form of pyruvate dehydrogenase deficiency is caused by mutations in the E1 alpha gene, and is inherited in an X-linked dominant manner; all other forms are caused by various genes and are inherited in an autosomal recessive manner. In addition to directly treating acidosis and providing alternative energy for the body, treatment typically includes dietary supplementation with thiamine, carnitine, and lipoic acids, although not all individuals respond to this therapy.
What causes pyruvate dehydrogenase deficiency? Pyruvate dehydrogenase (PDH) deficiency is usually caused by a deficiency of one or more enzymes or cofactors (such as thiamine) that are needed for an important chemical reaction in the cells of the body. These enzymes or cofactors are part of the pyruvate dehydrogenase complex and normally convert (or aid in converting) a chemical called pyruvate to another chemical called acetyl-coenzyme A (CoA), which is one of two important chemicals the body needs to make citrate for the cells. Because pyruvate cannot be converted to acetyl-CoA, there is too much pyruvate in the cells, which then gets used to produce more lactic acid (which is toxic in large amounts) and alanine; there is also not enough citrate being made by the body. Citrate is the first step in another important group of chemical reactions called the citric acid cycle, which then cannot proceed. The body tries to make alternate pathways to produce more acetyl-CoA, but there is still not enough energy made in the body, especially in the central nervous system (CNS). The amount of energy that is deficient depends on the amount of the enzyme that is deficient. The condition is sometimes referred to as pyruvate dehydrogenase complex (PDHC) deficiency because there is a "complex" of three enzymes normally used in the reaction; when any one or more of the enzymes needed for the above-described reaction are deficient, the condition results. The most common form of pyruvate dehydrogenase deficiency is caused by mutations in the X-linked dominant E1 alpha gene; all other causes are thought to be due to mutations in recessive genes.