umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Congenital generalized lipodystrophy type 4 ?

Answer: What are the signs and symptoms of Congenital generalized lipodystrophy type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hirsutism 5% Acanthosis nigricans - Autosomal recessive inheritance - Bradycardia - Constipation - Dysphagia - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Exercise intolerance - Failure to thrive - Feeding difficulties - Flexion contracture - Generalized muscle weakness - Hepatic steatosis - Hepatomegaly - Hyperinsulinemia - Hyperlordosis - Hypertriglyceridemia - IgA deficiency - Ileus - Infantile onset - Insulin resistance - Lipodystrophy - Muscle mounding - Muscle stiffness - Muscular dystrophy - Myalgia - Osteopenia - Osteoporosis - Prolonged QT interval - Prominent umbilicus - Proximal muscle weakness - Pyloric stenosis - Recurrent infections - Scoliosis - Skeletal muscle hypertrophy - Spinal rigidity - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Boomerang dysplasia ?

Answer: What are the signs and symptoms of Boomerang dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Boomerang dysplasia. 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 vertebral ossification 90% Abnormality of bone mineral density 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the tibia 90% Limb undergrowth 90% Narrow chest 90% Abnormality of the femur 50% Abnormality of the humerus 50% Abnormality of the metacarpal bones 50% Aplasia/Hypoplasia of the abdominal wall musculature 50% Aplasia/Hypoplasia of the lungs 50% Cryptorchidism 50% Finger syndactyly 50% Hydrops fetalis 50% Omphalocele 50% Polyhydramnios 50% Abnormality of the ulna 7.5% Absent radius - Autosomal dominant inheritance - Fibular aplasia - Hypoplastic iliac body - Hypoplastic nasal septum - Neonatal death - Severe short stature - Underdeveloped nasal alae - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Simpson-Golabi-Behmel syndrome ?

Answer: Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The other signs and symptoms of Simpson-Golabi-Behmel syndrome vary widely. The most severe cases are life-threatening before birth or in infancy, whereas people with milder cases often live into adulthood.  People with Simpson-Golabi-Behmel syndrome have distinctive facial features including widely spaced eyes (ocular hypertelorism), an unusually large mouth (macrostomia), a large tongue (macroglossia) that may have a deep groove or furrow down the middle, a broad nose with an upturned tip, and abnormalities affecting the roof of the mouth (the palate). The facial features are often described as "coarse" in older children and adults with this condition.  Other features of Simpson-Golabi-Behmel syndrome involve the chest and abdomen. Affected infants may be born with one or more extra nipples, an abnormal opening in the muscle covering the abdomen (diastasis recti), a soft out-pouching around the belly-button (an umbilical hernia), or a hole in the diaphragm (a diaphragmatic hernia) that allows the stomach and intestines to move into the chest and crowd the developing heart and lungs.  Simpson-Golabi-Behmel syndrome can also cause heart defects, malformed or abnormally large kidneys, an enlarged liver and spleen (hepatosplenomegaly), and skeletal abnormalities. Additionally, the syndrome can affect the development of the gastrointestinal system, urinary system, and genitalia. Some people with this condition have mild to severe intellectual disability, while others have normal intelligence.  About 10 percent of people with Simpson-Golabi-Behmel syndrome develop cancerous or noncancerous tumors in early childhood. The most common tumors are a rare form of kidney cancer called Wilms tumor and a cancerous tumor called a neuroblastoma that arises in developing nerve cells.
Question: What are the symptoms of Acromegaloid facial appearance syndrome ?

Answer: What are the signs and symptoms of Acromegaloid facial appearance syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromegaloid facial appearance syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Abnormality of the nasal alae 90% Abnormality of the tongue 90% Blepharophimosis 90% Coarse facial features 90% Gingival overgrowth 90% Hypertelorism 90% Joint hypermobility 90% Large hands 90% Palpebral edema 90% Thick lower lip vermilion 90% Abnormality of the metacarpal bones 50% Cognitive impairment 50% Craniofacial hyperostosis 50% Highly arched eyebrow 50% Sloping forehead 50% Synophrys 50% Thick eyebrow 50% Thickened skin 50% Intellectual disability, mild 7.5% Seizures 7.5% Specific learning disability 7.5% Tapered finger 7.5% Abnormality of the mouth - Autosomal dominant inheritance - Bulbous nose - Large for gestational age - 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.
Question: What are the symptoms of Schnitzler syndrome ?

Answer: What are the signs and symptoms of Schnitzler syndrome? The signs and symptoms of Schnitzler syndrome vary but may include: Red raised patches of skin (urticaria) that may become itchy Recurrent fevers Join pain and inflammation Organomegaly (enlarged internal organs) often involving the lymph nodes, liver and/or spleen Bone pain Blood abnormalities Muscle aches Fatigue Weight loss People affected by Schnitzler syndrome also have an increased risk of developing certain lymphoproliferative disorders. The Human Phenotype Ontology provides the following list of signs and symptoms for Schnitzler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal immunoglobulin level 90% Abnormality of temperature regulation 90% Arthralgia 90% Arthritis 90% Bone pain 90% Hepatomegaly 90% Increased bone mineral density 90% Lymphadenopathy 90% Myalgia 90% Splenomegaly 90% Urticaria 90% Anemia 50% Leukocytosis 50% Lymphoma 7.5% Peripheral neuropathy 7.5% Pruritus 7.5% Vasculitis 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.
Question: Is Epidermolysis bullosa inherited ?

Answer: How is epidermolysis bullosa inherited? Inherited epidermolysis bullosa (EB) may follow either an autosomal dominant or autosomal recessive inheritance pattern, depending on the type and subtype of inherited EB in the affected person. Epidermolysis bullosa simplex (the most common type of EB) is mainly autosomal dominant, except for a few rare autosomal recessive subtypes. Dystrophic epidermolysis bullosa (DEB) can be inherited in an autosomal dominant or autosomal recessive manner, depending on the subtype present. However, dominant DEB is the second most common major type of EB. Junctional epidermolysis bullosa is autosomal recessive, although one article stated that an autosomal dominant form has recently been reported. Kindler syndrome is only inherited in an autosomal recessive manner. A condition is autosomal dominant if having only one changed (mutated) copy of the responsible gene in each cell is enough to cause symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene from the affected parent. Many people with an autosomal dominant form of EB have an affected parent, but in some cases a mutation in the responsible gene occurs for the first time in a person with no family history of EB (called a de novo mutation). A person with a de novo mutation still has a 50% chance to pass the mutation on to each of his/her children. In autosomal recessive inheritance, a person must have a mutation in both copies of the responsible gene in each cell to be affected. Typically, an affected person inherits one changed (mutated) copy of the responsible gene from each parent, who are referred to as carriers. Carriers usually do not have symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be an unaffected carrier like each parent, and a 25% risk to not be a carrier and not be affected. Epidermolysis bullosa acquisita (acquired EB) is a rare autoimmune disorder and is not inherited.
Question: What are the symptoms of Nonspherocytic hemolytic anemia due to hexokinase deficiency ?

Answer: What are the signs and symptoms of Nonspherocytic hemolytic anemia due to hexokinase deficiency? Hexokinase deficiency manifests itself primarily as nonspherocytic hemolytic anemia (NSHA). The signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency, a more common inherited cause of hemolytic anemia, and may include jaundice, fatigue, lethargy, and pale skin.. However, the anemia associated with hexokinase deficiency is generally more severe. There have been reports of some affected individuals having various other abnormalities including multiple malformations, panmyelopathy, and latent diabetes. The Human Phenotype Ontology provides the following list of signs and symptoms for Nonspherocytic hemolytic anemia due to hexokinase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cholecystitis - Cholelithiasis - Congenital onset - Hyperbilirubinemia - Jaundice - Nonspherocytic hemolytic anemia - Normochromic anemia - Normocytic anemia - Reticulocytosis - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) cold-induced sweating syndrome ?

Answer: Cold-induced sweating syndrome is characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body. In infancy, the features of this condition are often known as Crisponi syndrome. Researchers originally thought that cold-induced sweating syndrome and Crisponi syndrome were separate disorders, but it is now widely believed that they represent the same condition at different times during life.  Infants with Crisponi syndrome have unusual facial features, including a flat nasal bridge, upturned nostrils, a long space between the nose and upper lip (philtrum), a high arched roof of the mouth (palate), a small chin (micrognathia), and low-set ears. The muscles in the lower part of the face are weak, leading to severe feeding difficulties, excessive drooling, and breathing problems. Other physical abnormalities associated with Crisponi syndrome include a scaly skin rash, an inability to fully extend the elbows, overlapping fingers and tightly fisted hands, and malformations of the feet and toes. Affected infants startle easily and often tense their facial muscles into a grimace-like expression. By six months of age, infants with Crisponi syndrome develop unexplained high fevers that increase the risk of seizures and sudden death.  Many of the health problems associated with Crisponi syndrome improve with time, and affected individuals who survive the newborn period go on to develop other features of cold-induced sweating syndrome in early childhood. Within the first decade of life, affected individuals begin having episodes of profuse sweating (hyperhidrosis) and shivering involving the face, torso, and arms. The excessive sweating is usually triggered by exposure to temperatures below about 65 or 70 degrees Fahrenheit, but it can also be triggered by nervousness or eating sugary foods. Paradoxically, affected individuals tend not to sweat in warmer conditions, instead becoming flushed and overheated in hot environments.  Adolescents with cold-induced sweating syndrome typically develop abnormal side-to-side and front-to-back curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). Although infants may develop life-threatening fevers, affected individuals who survive infancy have a normal life expectancy.
Question: What are the treatments for Urine Blockage in Newborns ?

Answer: Treatment for urine blockage depends on the cause and severity of the blockage. Hydronephrosis discovered before the baby is born rarely requires immediate action, especially if it is only on one side. The condition often goes away without any treatment before or after birth. The health care provider should keep track of the condition with frequent ultrasounds.
                
Surgery
                
If the urine blockage threatens the life of the unborn baby, a fetal surgeon may recommend surgery to insert a shunt or correct the problem causing the blockage. A shunt is a small tube that can be inserted into the babys bladder to release urine into the amniotic sac. The procedure is similar to amniocentesis, in that a needle is inserted through the mothers abdomen. Ultrasound guides placement of the shunt, which is attached to the end of the needle. Alternatively, an endoscopea small, flexible tube with a lightcan be used to place a shunt or to repair the problem causing the blockage. Fetal surgery carries many risks, so it is performed only in special circumstances, such as when the amniotic fluid is absent and the babys lungs are not developing or when the kidneys are severely damaged.
                
If the urinary defect does not correct itself after the child is born, and the child continues to have urine blockage, surgery may be needed to remove the obstruction and restore urine flow. The decision to operate depends on the degree of blockage. After surgery, a small tube, called a stent, may be placed in the ureter or urethra to keep it open temporarily while healing occurs.
                
Antibiotics
                
Antibiotics are bacteria-fighting medications. A child with possible urine blockage or VUR may be given antibiotics to prevent UTIs from developing until the urinary defect corrects itself or is corrected with surgery.
                
Intermittent Catheterization
                
Intermittent catheterization may be used for a child with urinary retention due to a nerve disease. The parent or guardian, and later the child, is taught to drain the bladder by inserting a thin tube, called a catheter, through the urethra to the bladder. Emptying the bladder in this way helps to decrease kidney damage, urine leakage, and UTIs.
Question: What are the treatments for Nerve Disease and Bladder Control ?

Answer: The job of the sphincter muscles is to hold urine in the bladder by squeezing the urethra shut. If the urethral sphincter fails to stay closed, urine may leak out of the bladder. When nerve signals are coordinated properly, the sphincter muscles relax to allow urine to pass through the urethra as the bladder contracts to push out urine. If the signals are not coordinated, the bladder and the sphincter may contract at the same time, so urine cannot pass easily.
                
Drug therapy for an uncoordinated bladder and urethra. Scientists have not yet found a drug that works selectively on the urethral sphincter muscles, but drugs used to reduce muscle spasms or tremors are sometimes used to help the sphincter relax. Baclofen (Lioresal) is prescribed for muscle spasms or cramping in patients with multiple sclerosis and spinal injuries. Diazepam (Valium) can be taken as a muscle relaxant or to reduce anxiety. Drugs called alpha-adrenergic blockers can also be used to relax the sphincter. Examples of these drugs are alfuzosin (UroXatral), tamsulosin (Flomax), terazosin (Hytrin), and doxazosin (Cardura). The main side effects are low blood pressure, dizziness, fainting, and nasal congestion. All of these drugs have been used to relax the urethral sphincter in people whose sphincter does not relax well on its own.
                
Botox injection. Botulinum toxin type A (Botox) is best known as a cosmetic treatment for facial wrinkles. Doctors have also found that botulinum toxin is useful in blocking spasms like eye ticks or relaxing muscles in patients with multiple sclerosis. Urologists have found that injecting botulinum toxin into the tissue surrounding the sphincter can help it to relax. Although the FDA has approved botulinum toxin only for facial cosmetic purposes, researchers are studying the safety and effectiveness of botulinum toxin injection into the sphincter for possible FDA approval in the future.
Question: What are the symptoms of PAGOD syndrome ?

Answer: What are the signs and symptoms of PAGOD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PAGOD 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 pulmonary artery 90% Aplasia/Hypoplasia of the lungs 90% Abnormality of female internal genitalia 50% Abnormality of the testis 50% Congenital diaphragmatic hernia 50% Female pseudohermaphroditism 50% Hypoplastic left heart 50% Multicystic kidney dysplasia 50% Omphalocele 50% Renal hypoplasia/aplasia 50% Abnormality of neuronal migration 7.5% Abnormality of the aorta 7.5% Abnormality of the clavicle 7.5% Abnormality of the ribs 7.5% Abnormality of the spleen 7.5% Asymmetric growth 7.5% Encephalocele 7.5% Meningocele 7.5% Microcephaly 7.5% Optic atrophy 7.5% Short stature 7.5% Situs inversus totalis 7.5% Sudden cardiac death 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.