sarnsrun/medquad huggingface dataset:
Topic: Acromesomelic dysplasia
Question: What is (are) Acromesomelic dysplasia ?
Answer: Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type
Source: GARD
Topic: Infantile Parkinsonism-dystonia
Question: What are the symptoms of Infantile Parkinsonism-dystonia ?
Answer: What are the signs and symptoms of Infantile Parkinsonism-dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile Parkinsonism-dystonia. 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 - Autosomal recessive inheritance - Bradykinesia - Chorea - Constipation - Delayed gross motor development - Dyskinesia - Feeding difficulties - Gastroesophageal reflux - Hypertonia - Infantile onset - Limb dystonia - Morphological abnormality of the pyramidal tract - Muscular hypotonia of the trunk - Parkinsonism - Progressive - Rigidity - Tremor - 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.
Source: GARD
Topic: Pierson syndrome
Question: What is (are) Pierson syndrome ?
Answer: Pierson syndrome is a very rare condition that mainly affects the kidneys and eyes. Signs and symptoms include congenital nephrotic syndrome and distinct ocular (eye) abnormalities, including microcoria (small pupils that are not responsive to light). Most affected children have early-onset, chronic renal failure; neurodevelopmental problems; and blindness. Hypotonia (poor muscle tone) and movement disorders have also been reported. Pierson syndrome is caused by changes (mutations) in the LAMB2 gene and is inherited in an autosomal recessive manner. The long-term outlook is poor; affected infants may not survive past the first weeks or months of life.
Source: GARD
Topic: Pierson syndrome
Question: What are the symptoms of Pierson syndrome ?
Answer: What are the signs and symptoms of Pierson syndrome? The features and severity of Pierson syndrome can vary among affected people. Affected infants are usually born with serious and progressive kidney disease due to congenital nephrotic syndrome, although some do not have kidney failure until adulthood. Most require a renal transplant for end-stage kidney disease within the first decade of life. Ocular (eye) abnormalities are another common feature of Pierson syndrome. Most affected infants are born with abnormally small pupils (microcoria). Other ocular abnormalities may include cataracts, glaucoma, retinal detachments, and blindness. Those that survive past infancy typically have neurological disabilities and developmental delays. Many children with Pierson syndrome don't achieve normal milestones such as sitting, standing, and talking. The Human Phenotype Ontology provides the following list of signs and symptoms for Pierson 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 movement 90% Cataract 90% EEG abnormality 90% Hematuria 90% Hemiplegia/hemiparesis 90% Hypertension 90% Muscular hypotonia 90% Nephrotic syndrome 90% Nystagmus 90% Proteinuria 90% Hypoplasia of penis 50% Areflexia - Autosomal recessive inheritance - Blindness - Diffuse mesangial sclerosis - Edema - Hypoplasia of the ciliary body - Hypoplasia of the iris - Hypoproteinemia - Neonatal onset - Posterior lenticonus - Stage 5 chronic kidney disease - 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.
Source: GARD
Topic: Pierson syndrome
Question: Is Pierson syndrome inherited ?
Answer: How is Pierson syndrome inherited? Pierson syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier
Source: GARD
Topic: Pierson syndrome
Question: How to diagnose Pierson syndrome ?
Answer: Is genetic testing available for Pierson syndrome? Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Pierson syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. According to the GTR, genetic testing for Pierson syndrome may be available for diagnosis in a person suspected of having the condition, carrier testing, and prenatal testing.
Source: GARD
Topic: Empty sella syndrome
Question: What is (are) Empty sella syndrome ?
Answer: Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person.
Source: GARD
Topic: Empty sella syndrome
Question: What are the symptoms of Empty sella syndrome ?
Answer: What are the signs and symptoms of Empty sella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Empty sella 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) Atresia of the external auditory canal 90% Conductive hearing impairment 90% Dolichocephaly 90% Dural ectasia 90% Hypoplasia of the zygomatic bone 90% Low-set, posteriorly rotated ears 90% Meningocele 90% Narrow face 90% Ptosis 90% Wormian bones 90% Abnormal form of the vertebral bodies 50% Abnormality of the teeth 50% Craniofacial hyperostosis 50% Joint hypermobility 50% Low posterior hairline 50% Pectus excavatum 50% Prominent metopic ridge 50% Scoliosis 50% Short neck 50% Short stature 50% Umbilical hernia 50% Arnold-Chiari malformation 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Hyperlordosis 7.5% Hypertelorism 7.5% Iris coloboma 7.5% Kyphosis 7.5% Muscular hypotonia 7.5% Proptosis 7.5% Sensorineural hearing impairment 7.5% Syringomyelia 7.5% Ventricular septal defect 7.5% Abnormality of the middle ear ossicles - Abnormality of the rib cage - Abnormality of the skin - Arachnoid cyst - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Biconcave vertebral bodies - Dental crowding - High palate - Inguinal hernia - Long philtrum - Low-set ears - Malar flattening - Patent ductus arteriosus - Platybasia - Posteriorly rotated ears - Sclerosis of skull base - Short nasal bridge - Smooth philtrum - Vertebral fusion - 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.
Source: GARD
Topic: Empty sella syndrome
Question: Is Empty sella syndrome inherited ?
Answer: Is empty sella syndrome inherited? Empty sella syndrome (ESS) is typically not inherited. We are aware of one report of familial ESS, occurring in a father and two children. Some researchers believe that a defect present at birth may play a role in the development of the condition, but are unsure whether the defect directly causes ESS or is only a predisposing factor.
Source: GARD
Topic: Achondroplasia and severe combined immunodeficiency
Question: What is (are) Achondroplasia and severe combined immunodeficiency ?
Answer: Achondroplasia with severe combined immunodeficiency is an extremely rare type of SCID. The condition is characterized by the classic signs of SCID, including severe and recurrent infections, diarrhea, failure to thrive, and absence of T and B lymphocytes along with skeletal anomalies like short stature, bowing of the long bones and other abnormalities affecting the ends of the long bones (metaphyseal abnormalities). Children with this condition have a shortened life expectancy, generally surviving only into early childhood. Achondroplasia with severe combined immunodeficiency is inherited in an autosomal recessive manner.
Source: GARD
Topic: Achondroplasia and severe combined immunodeficiency
Question: What are the symptoms of Achondroplasia and severe combined immunodeficiency ?
Answer: What are the signs and symptoms of Achondroplasia and severe combined immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and severe combined immunodeficiency. 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) Cellular immunodeficiency 90% Lymphopenia 90% Recurrent respiratory infections 90% Fine hair 50% Reduced bone mineral density 50% Short stature 50% Abnormality of the fibula 7.5% Abnormality of the pancreas 7.5% Aganglionic megacolon 7.5% Anemia 7.5% Cognitive impairment 7.5% Hernia of the abdominal wall 7.5% Hypopigmentation of hair 7.5% Malabsorption 7.5% Pectus excavatum 7.5% Abnormality of the thorax - Agammaglobulinemia - Autosomal recessive inheritance - Death in childhood - Hypoplasia of the thymus - Metaphyseal chondrodysplasia - Severe combined immunodeficiency - 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.
Source: GARD
Topic: Gardner-Diamond syndrome
Question: What is (are) Gardner-Diamond syndrome ?
Answer: Gardner-Diamond syndrome (GDS) is a rare condition characterized by episodes of unexplained, painful bruising that mostly occurs on the arms, legs, and/or face. It is most common in Caucasian women who have mental illness or emotional stress. Symptoms typically include the formation of multiple, small, purple bruises that may be associated with burning, redness and swelling. Most affected people report that the bruising occurs either spontaneously, or some time after trauma or surgery at other sites of the body. The cause of GDS is poorly understood. Management typically involves psychiatric treatment.
Source: GARD
Topic: Gardner-Diamond syndrome
Question: What are the symptoms of Gardner-Diamond syndrome ?
Answer: What are the signs and symptoms of Gardner-Diamond syndrome? People with Gardner-Diamond syndrome have reported that bruises occur either spontaneously or after trauma or surgery (even at other sites of the body). Some people are able to pinpoint exactly when the bruising occurred, while others are not. Episodes of bruising may begin with sensations such as burning, stinging or pain, and may be accompanied by a general feeling of malaise or fatigue. This may be followed by warmth, puffiness, redness and/or itching over the affected area. In some cases, episodes may also be accompanied by fever, headache, or gastrointestinal symptoms. Sometimes, pain and swelling is severe enough to cause immobilization of the affected body part. People have reported that the pain generally subsides when the bruises appear. Bruises typically go away in approximately 7-10 days. However, relapses and remissions of bruising episodes can last for many years. In some cases, symptoms of the condition persist and may worsen. Subsequent episodes are most likely to occur after some sort of physical trauma or stress.
Source: GARD
Topic: Gardner-Diamond syndrome
Question: What causes Gardner-Diamond syndrome ?
Answer: What causes Gardner-Diamond syndrome? The underlying cause of Gardner-Diamond syndrome (GDS) is poorly understood and has not been identified. Experts have proposed several possible explanations including: response to stress - stress, or distress, is associated with increased levels of glucocorticoids and catecholamines in the body, which may alter processes such as fibrinolysis (the breakdown of blood clots) increased fibrinolysis - an increase in the activity of tissue plasminogen activator (tPA), which can cause a cascade of events that may lead to bleeding autoerythrocyte sensitization - an autoimmune reaction to the affected person's own red blood cells (erythrocytes)
Source: GARD
Topic: Gardner-Diamond syndrome
Question: How to diagnose Gardner-Diamond syndrome ?
Answer: How is Gardner-Diamond syndrome diagnosed? There are no specific laboratory tests that can confirm the diagnosis of Gardner-Diamond syndrome (GDS), but various tests may be used to rule out other conditions. The diagnosis may be considered based on the presence of symptoms, when all other causes of bleeding have been ruled out (including the use or misuse of various medications that may be associated with bleeding). A detailed psychiatric evaluation is of huge importance if GDS is suspected, with information concerning how the person has responded to major stressful events in his or her life (such as fetal losses, death in the family, divorce, loss of income). While the underlying cause of GDS is unknown, an abnormal psychiatric history is virtually always present.
Source: GARD
Topic: Gardner-Diamond syndrome
Question: What are the treatments for Gardner-Diamond syndrome ?
Answer: How might Gardner-Diamond syndrome be treated? There is no specific treatment for Gardner-Diamond syndrome (GDS). It has been suggested that psychiatric treatment (including psychotherapy) is the only reasonable therapeutic option. In some people, psychiatric medications for mental illness have helped to improve the symptoms. For example, in a person with GDS and an underlying personality disorder, medications used to treat the personality disorder may help with the symptoms of GDS. Due to the presumed psychological nature of the disease, placebo effect has been used successfully to ease the severity of symptoms. It has been proposed that certain medications used to alter the tonus of the capillaries (how they contract), the permeability of the vessels, and/or the flowing properties of the blood may be useful for some people. Symptomatic therapy may be helpful for severe, general symptoms. Several approaches including antihistamines, corticosteroids, antidepressants, hormones, and vitamins have had variable success.
Source: GARD
Topic: Achondrogenesis type 2
Question: What is (are) Achondrogenesis type 2 ?
Answer: Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications.  There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing.  Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern.  Type 1B may be caused by mutations in the SLC26A2 gene.  Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene.
Source: GARD
Topic: Achondrogenesis type 2
Question: What are the symptoms of Achondrogenesis type 2 ?
Answer: What are the signs and symptoms of Achondrogenesis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis type 2. 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 bone mineral density 90% Anteverted nares 90% Aplasia/Hypoplasia of the lungs 90% Frontal bossing 90% Hydrops fetalis 90% Long philtrum 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Short neck 90% Short nose 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Thickened nuchal skin fold 90% Polyhydramnios 50% Umbilical hernia 50% Cystic hygroma 7.5% Postaxial hand polydactyly 7.5% Abdominal distention - Abnormality of the foot - Absent vertebral body mineralization - Autosomal dominant inheritance - Barrel-shaped chest - Broad long bones - Cleft palate - Disproportionate short-limb short stature - Disproportionate short-trunk short stature - Edema - Horizontal ribs - Hypoplastic iliac wing - Short long bone - Short ribs - Short tubular bones (hand) - Stillbirth - 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.
Source: GARD
Topic: Pearson syndrome
Question: What is (are) Pearson syndrome ?
Answer: Pearson syndrome is a mitochondrial disorder characterized by transfusion-dependent sideroblastic anemia and pancreatic dysfunction resulting in in malabsorption and chronic diarrhea. The features of this progressive disorder may change over time. Individuals who survive beyond infancy often develop the symptoms of Kearns-Sayre syndrome or Leigh syndrome. Pearson syndrome is caused by deletions in mitochondrial DNA. Inheritance is usually sporadic.
Source: GARD