umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Mesomelic dwarfism cleft palate camptodactyly ?

Answer: 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.
Question: What are the symptoms of Genoa syndrome ?

Answer: What are the signs and symptoms of Genoa syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Genoa 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 form of the vertebral bodies 90% Abnormality of retinal pigmentation 90% Abnormality of the hip bone 90% Blepharophimosis 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Craniosynostosis 90% Delayed skeletal maturation 90% Epicanthus 90% Facial asymmetry 90% Holoprosencephaly 90% Hypotelorism 90% Microcephaly 90% Muscular hypotonia 90% Plagiocephaly 90% Short distal phalanx of finger 90% Short stature 90% Skeletal muscle atrophy 90% Strabismus 90% Upslanted palpebral fissure 90% Coronal craniosynostosis - Coxa valga - Hypoplastic vertebral bodies - Lambdoidal craniosynostosis - Semilobar holoprosencephaly - 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) Central Pontine Myelinolysis ?

Answer: Central pontine myelinolysis (CPM) is a neurological disorder that most frequently occurs after too rapid medical correction of sodium deficiency (hyponatremia). The rapid rise in sodium concentration is accompanied by the movement of small molecules and pulls water from brain cells. Through a mechanism that is only partly understood, the shift in water and brain molecules leads to the destruction of myelin, a substance that surrounds and protects nerve fibers. Nerve cells (neurons) can also be damaged. Certain areas of the brain are particularly susceptible to myelinolysis, especially the part of the brain stem called the pons. Some individuals will also have damage in other areas of the brain, which is called extrapontine myelinolysis (EPM). Experts estimate that 10 percent of those with CPM will also have areas of EPM.
                
The initial symptoms of myelinolysis, which begin to appear 2 to 3 days after hyponatremia is corrected, include a depressed level of awareness, difficulty speaking (dysarthria or mutism), and difficulty swallowing (dysphagia). Additional symptoms often arise over the next 1-2 weeks, including impaired thinking, weakness or paralysis in the arms and legs, stiffness, impaired sensation, and difficulty with coordination. At its most severe, myelinolysis can lead to coma, locked-in syndrome (which is the complete paralysis of all of the voluntary muscles in the body except for those that control the eyes), and death.
                
Although many affected people improve over weeks to months, some have permanent disability. Some also develop new symptoms later, including behavioral or intellectual impairment or movement disorders like parkinsonism or tremor.
                
Anyone, including adults and children, who undergoes a rapid rise in serum sodium is at risk for myelinolysis. Some individuals who are particularly vulnerable are those with chronic alcoholism and those who have had a liver transplant. Myelinolysis has occurred in individuals undergoing renal dialysis, burn victims, people with HIV-AIDS, people over-using water loss pills (diuretics), and women with eating disorders such as anorexia or bulimia. The risk for CPM is greater if the serum (blood) sodium was low for at least 2 days before correction.
Question: What is (are) Shprintzen-Goldberg syndrome ?

Answer: Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body. Affected individuals have a combination of distinctive facial features and skeletal and neurological abnormalities.  A common feature in people with Shprintzen-Goldberg syndrome is craniosynostosis, which is the premature fusion of certain skull bones. This early fusion prevents the skull from growing normally. Affected individuals can also have distinctive facial features, including a long, narrow head; widely spaced eyes (hypertelorism); protruding eyes (exophthalmos); outside corners of the eyes that point downward (downslanting palpebral fissures); a high, narrow palate; a small lower jaw (micrognathia); and low-set ears that are rotated backward.  People with Shprintzen-Goldberg syndrome are often said to have a marfanoid habitus, because their bodies resemble those of people with a genetic condition called Marfan syndrome. For example, they may have long, slender fingers (arachnodactyly), unusually long limbs, a sunken chest (pectus excavatum) or protruding chest (pectus carinatum), and an abnormal side-to-side curvature of the spine (scoliosis). People with Shprintzen-Goldberg syndrome can have other skeletal abnormalities, such as one or more fingers that are permanently bent (camptodactyly) and an unusually large range of joint movement (hypermobility).  People with Shprintzen-Goldberg syndrome often have delayed development and mild to moderate intellectual disability.  Other common features of Shprintzen-Goldberg syndrome include heart or brain abnormalities, weak muscle tone (hypotonia) in infancy, and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia).  Shprintzen-Goldberg syndrome has signs and symptoms similar to those of Marfan syndrome and another genetic condition called Loeys-Dietz syndrome. However, intellectual disability is more likely to occur in Shprintzen-Goldberg syndrome than in the other two conditions. In addition, heart abnormalities are more common and usually more severe in Marfan syndrome and Loeys-Dietz syndrome.
Question: What is (are) vitamin D-dependent rickets ?

Answer: Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). The condition is split into two major types: type 1 (VDDR1), which is also known as pseudovitamin D deficiency rickets or vitamin D 1-hydroxylase deficiency, and type 2 (VDDR2), also known as hereditary vitamin D-resistant rickets (HVDRR).  The signs and symptoms of this condition begin within months of birth, and most are the same for VDDR1 and VDDR2. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop bowed legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the areas near the ends of bones where new bone forms (metaphyses), especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures.  In vitamin D-dependent rickets, there is an imbalance of certain substances in the blood. Both VDDR1 and VDDR2 are characterized by low levels of the minerals calcium (hypocalcemia) and phosphate (hypophosphatemia), which are essential for the normal formation of bones and teeth. Affected individuals also have high levels of a hormone involved in regulating calcium levels called parathyroid hormone (PTH), which leads to a condition called secondary hyperparathyroidism. The two forms of vitamin D-dependent rickets can be distinguished by blood levels of a hormone called calcitriol, which is the active form of vitamin D; individuals with VDDR1 have abnormally low levels of calcitriol and individuals with VDDR2 have abnormally high levels.  Hair loss (alopecia) can occur in VDDR2, although not everyone with this form of the condition has alopecia. Affected individuals can have sparse or patchy hair or no hair at all on their heads. Some affected individuals are missing body hair as well.
Question: What are the treatments for Hemorrhoids ?

Answer: At-home Treatments
                
Simple diet and lifestyle changes often reduce the swelling of hemorrhoids and relieve hemorrhoid symptoms. Eating a high-fiber diet can make stools softer and easier to pass, reducing the pressure on hemorrhoids caused by straining.
                
Fiber is a substance found in plants. The human body cannot digest fiber, but fiber helps improve digestion and prevent constipation. Good sources of dietary fiber are fruits, vegetables, and whole grains. On average, Americans eat about 15 grams of fiber each day.3 The American Dietetic Association recommends 25 grams of fiber per day for women and 38 grams of fiber per day for men.3
                
Doctors may also suggest taking a bulk stool softener or a fiber supplement such as psyllium (Metamucil) or methylcellulose (Citrucel).
                
Other changes that may help relieve hemorrhoid symptoms include
                
- drinking six to eight 8-ounce glasses of water or other nonalcoholic fluids each day  - sitting in a tub of warm water for 10 minutes several times a day  - exercising to prevent constipation  - not straining during bowel movements
                
Over-the-counter creams and suppositories may temporarily relieve the pain and itching of hemorrhoids. These treatments should only be used for a short time because long-term use can damage the skin.
                
Medical Treatment
                
If at-home treatments do not relieve symptoms, medical treatments may be needed. Outpatient treatments can be performed in a doctor's office or a hospital. Outpatient treatments for internal hemorrhoids include the following:
                
- Rubber band ligation. The doctor places a special rubber band around the base of the hemorrhoid. The band cuts off circulation, causing the hemorrhoid to shrink. This procedure should be performed only by a doctor.  - Sclerotherapy. The doctor injects a chemical solution into the blood vessel to shrink the hemorrhoid.  - Infrared coagulation. The doctor uses heat to shrink the hemorrhoid tissue.
                
Large external hemorrhoids or internal hemorrhoids that do not respond to other treatments can be surgically removed.
Question: What are the symptoms of Congenital pulmonary lymphangiectasia ?

Answer: What are the signs and symptoms of Congenital pulmonary lymphangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital pulmonary lymphangiectasia. 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) Acrocyanosis 90% Respiratory insufficiency 90% Abnormality of the pericardium 50% Chronic obstructive pulmonary disease 50% Congestive heart failure 50% Hydrops fetalis 50% Abnormality of the tricuspid valve 7.5% Hepatomegaly 7.5% Pulmonary hypertension 7.5% Splenomegaly 7.5% Autosomal recessive inheritance - Bronchodysplasia - Chylothorax - Chylous ascites - Depressed nasal bridge - Edema of the lower limbs - Flat face - Hypertelorism - Malar flattening - Mild postnatal growth retardation - Nonimmune hydrops fetalis - Palpebral edema - Pectus excavatum - Pleural effusion - Polyhydramnios - Pulmonary lymphangiectasia - Recurrent respiratory infections - Variable expressivity - 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 are the symptoms of Hoyeraal Hreidarsson syndrome ?

Answer: What are the signs and symptoms of Hoyeraal Hreidarsson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hoyeraal Hreidarsson 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 immune system physiology 90% Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Intrauterine growth retardation 90% Microcephaly 90% Short stature 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Abnormal hair quantity 50% Abnormality of coagulation 50% Abnormality of the nail 50% Abnormality of the oral cavity 50% Anemia 50% Cerebral cortical atrophy 50% Generalized hyperpigmentation 50% Hypertonia 50% Hypopigmentation of hair 50% Ventriculomegaly 50% Abnormality of leukocytes 7.5% Bone marrow hypocellularity 7.5% Cerebral calcification 7.5% Incoordination 7.5% Neoplasm 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: What are the symptoms of Rienhoff syndrome ?

Answer: What are the signs and symptoms of Rienhoff syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rienhoff 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) Brachycephaly 5% Broad face 5% Bruising susceptibility 5% Cerebral hemorrhage 5% Cervical spine instability 5% Dolichocephaly 5% Hypoplasia of midface 5% Long face 5% Motor delay 5% Patent foramen ovale 5% Ptosis 5% Smooth philtrum 5% Spondylolisthesis 5% Talipes equinovarus 5% Ventricular septal defect 5% Arachnodactyly - Autosomal dominant inheritance - Bifid uvula - Bilateral coxa valga - Blue sclerae - Cleft palate - Decreased muscle mass - Exotropia - Hiatus hernia - High palate - Hypertelorism - Hyporeflexia - Increased arm span - Inguinal hernia - Joint hypermobility - Kyphoscoliosis - Mitral regurgitation - Pectus carinatum - Pectus excavatum - Pes planus - Proptosis - Retrognathia - Short stature - Small for gestational age - Tall 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.
Question: What are the symptoms of Chromosome 6q25 microdeletion syndrome ?

Answer: What are the signs and symptoms of Chromosome 6q25 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 6q25 microdeletion 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) Cognitive impairment 90% Microcephaly 90% Sensorineural hearing impairment 90% Aplasia/Hypoplasia of the corpus callosum 50% Epicanthus 50% Hypertelorism 50% Low-set, posteriorly rotated ears 50% Malar flattening 50% Plagiocephaly 50% Short stature 50% Wide nasal bridge 50% Abnormality of the genital system 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Hypertonia 7.5% Long philtrum 7.5% Muscular hypotonia 7.5% Rocker bottom foot 7.5% Seizures 7.5% Upslanted palpebral fissure 7.5% Ventriculomegaly 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: What are the symptoms of Primary Familial Brain Calcification ?

Answer: What are the signs and symptoms of Primary Familial Brain Calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary Familial Brain Calcification. 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 neuronal migration 90% Cerebral calcification 90% Hepatomegaly 90% Intrauterine growth retardation 90% Microcephaly 90% Seizures 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Ventriculomegaly 90% Opacification of the corneal stroma 50% Abnormal pyramidal signs 5% Adult onset - Athetosis - Autosomal dominant inheritance - Basal ganglia calcification - Bradykinesia - Calcification of the small brain vessels - Chorea - Dense calcifications in the cerebellar dentate nucleus - Depression - Dysarthria - Dysdiadochokinesis - Dystonia - Gait disturbance - Hyperreflexia - Limb dysmetria - Mask-like facies - Memory impairment - Mental deterioration - Parkinsonism - Postural instability - Progressive - Psychosis - Rigidity - Tremor - Urinary incontinence - 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.