sarnsrun/medquad huggingface dataset:
Topic: Femoral facial syndrome
Question: What are the symptoms of Femoral facial syndrome ?
Answer: What are the signs and symptoms of Femoral facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Femoral facial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Cleft palate 90% Abnormality of the fibula 50% Abnormality of the hip bone 50% Abnormality of the sacrum 50% Abnormality of the tibia 50% Limb undergrowth 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Maternal diabetes 50% Preaxial foot polydactyly 50% Short nose 50% Short stature 50% Talipes 50% Thin vermilion border 50% Upslanted palpebral fissure 50% Vertebral segmentation defect 50% Abnormal localization of kidney 7.5% Abnormality of the ribs 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cryptorchidism 7.5% Hernia of the abdominal wall 7.5% Long penis 7.5% Radioulnar synostosis 7.5% Scoliosis 7.5% Sprengel anomaly 7.5% Strabismus 7.5% Ventriculomegaly 7.5% Abnormal facial shape - Abnormality of the pinna - Abnormality of the renal collecting system - Absent vertebrae - Aplasia/hypoplasia of the femur - Dysplastic sacrum - Esotropia - Gastroesophageal reflux - Hemivertebrae - Humeroradial synostosis - Hypoplastic acetabulae - Hypoplastic labia majora - Inguinal hernia - Limited elbow movement - Limited shoulder movement - Low-set ears - Micropenis - Missing ribs - Polycystic kidney dysplasia - Preaxial hand polydactyly - Pulmonic stenosis - Renal agenesis - Rib fusion - Short fifth metatarsal - Short fourth metatarsal - Short humerus - Short third metatarsal - Smooth philtrum - Sporadic - Talipes equinovarus - Toe syndactyly - Truncus arteriosus - Underdeveloped nasal alae - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Femoral facial syndrome
Question: Is Femoral facial syndrome inherited ?
Answer: Is femoral facial syndrome inherited? The vast majority of cases of femoral facial syndrome (FFS) have been sporadic, not inherited. When a condition is sporadic, it means that it occurs in an individual who has no history of the condition in his/her family. Occurrence in more than one family member has been reported in three cases, but no sibling recurrences have been reported. Maternal diabetes has been recognized as a major factor causing FFS in more than 20% of the reported cases. The circumstances of the reported cases in the literature support non-genetic causes of FFS, such as teratogenic exposure. It is theoretically possible that the cause could sometimes be a new gene mutation occurring in the affected individual, or autosomal dominant inheritance with reduced penetrance.
Source: GARD
Topic: Metachondromatosis
Question: What is (are) Metachondromatosis ?
Answer: Metachondromatosis (MC) is a rare bone disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. The first signs occur during the first decade of life. Osteochondromas most commonly occur in the hands and feet (predominantly in digits and toes), and enchondromas involve the iliac crests and metaphyses of long bones. The lesions typically spontaneously decrease in size or regress. Nerve paralysis or vascular complications may occur in some cases. The condition has been linked to mutations in the PTPN11 gene in several families and is inherited in an autosomal dominant manner. Treatment may include surgery to remove osteochondromas in severe cases.[8171]
Source: GARD
Topic: Disseminated peritoneal leiomyomatosis
Question: What is (are) Disseminated peritoneal leiomyomatosis ?
Answer: Disseminated peritoneal leiomyomatosis (DPL) is a rare condition which is characterized by nodules or small lumps of smooth muscle cells located on the peritoneum (lining of the abdominal wall) and abdominal organs.The condition is usually benign (noncancerous) but in rare cases has become cancerous. Although it can be seen in post-menopausal women and very rarely in men, DPL occurs most often in women of childbearing age. Most women with DPL are pregnant, taking the birth control pill, or have uterine leioyomas or estrogen-secreting tumors. Some people with DPL have no signs or symptoms of the condition. When present, symptoms may include abdominal and pelvic pain; rectal or vaginal bleeding; and less commonly constipation. The cause of DPL is unknown but may be linked to hormonal and genetic factors. Some cases of DPL resolve when hormone levels are returned to normal. However, surgery may be suggested based on the size and location of the tumor.
Source: GARD
Topic: Disseminated peritoneal leiomyomatosis
Question: What are the symptoms of Disseminated peritoneal leiomyomatosis ?
Answer: What are the signs and symptoms of disseminated peritoneal leiomyomatosis (DPL)? Disseminated peritoneal leiomyomatosis (DPL) often does not produce any symptoms. When symptoms do occur, they may include: Abdominal and pelvic pain which is often associated with abnormal menstrual bleeding (dysmenorrhia) Rectal bleeding Abnormally heavy bleeding during menstruation (menorrhagia) Constipation Intestinal obstruction DPL may be discovered incidentally during a physical exam when masses may be felt in the abdomen. Since DPL usually does not produce any symptoms, the condition may also be unexpectedly found during a cesarean section (C-section) or abdominal surgery of another reason.
Source: GARD
Topic: Disseminated peritoneal leiomyomatosis
Question: What causes Disseminated peritoneal leiomyomatosis ?
Answer: What causes disseminated peritoneal leiomyomatosis (DPL)? The cause of disseminated peritoneal leiomyomatosis (DPL) is unknown, but medical researchers believe it is influenced by both hormonal and genetic factors. Not all cases are related to hormone levels, as some cases have occurred in men and in post-menopausal women not receiving hormone replacement therapy. DPL is often associated with uterine leiomyomas but the connection is unclear. Most cases occur sporadically in people with no family history of the condition; however, more than one family member can be affected. Although this suggests that genetic factors may play a role in the development of DPL in some families, researchers have not identified any specific gene changes known to cause the condition.The cause of the condition is considered multifactorial .
Source: GARD
Topic: Disseminated peritoneal leiomyomatosis
Question: How to diagnose Disseminated peritoneal leiomyomatosis ?
Answer: How is disseminated peritoneal leiomyomatosis (DPL) diagnosed? An ultrasound may reveal the presence of nodules (lumps) which may indicate disseminated peritoneal leiomyomatosis (DPL). However, DPL can only be confirmed by a biopsy of the nodule. The nodules should contain smooth muscle cells with no atypia (no abnormal structure) or necrosis (dead cells). The cells usually have both progesterone and estrogen receptors, but this is not always the case. The cells usually have a low mitotic index (meaning they are not dividing at a high rate).
Source: GARD
Topic: Disseminated peritoneal leiomyomatosis
Question: What are the treatments for Disseminated peritoneal leiomyomatosis ?
Answer: How might disseminated peritoneal leiomyomatosis (DPL) be treated? Presently there are no treatment guidelines for disseminated peritoneal leiomyomatosis (DPL). DPL is considered a benign condition and some cases of DPL resolve after the baby is delivered (if pregnant), hormone treatment is stopped (including both birth control pill and hormone replacement therapy), or a hormone producing tumor is removed. However, surgery may be suggested based on the size and location of the tumor.
Source: GARD
Topic: Larsen syndrome
Question: What is (are) Larsen syndrome ?
Answer: Larsen syndrome is a condition that causes abnormal development of the bones. Signs and symptoms may include clubfoot and numerous joint dislocations at birth (affecting the hips, knees and elbows); flexible joints; and a distinctive appearance of the face, hands and feet. Larsen syndrome is inherited in an autosomal dominant manner and is caused by mutations in the FLNB gene. Management may include surgeries (especially for hip dislocation), and physiotherapy.
Source: GARD
Topic: Larsen syndrome
Question: Is Larsen syndrome inherited ?
Answer: How is Larson syndrome inherited? Larson syndrome is inherited in an autosomal dominant manner. A condition is autosomal dominant when having one copy of the changed (mutated) gene in each cell is enough to cause signs or symptoms of the condition. In some cases, an affected person inherits the mutation from one affected parent; in other cases, a new mutation occurs for the first time in the affected person. While some authors have suggested autosomal recessive inheritance in families with affected siblings and unaffected parents, it was found that some of these children were affected due to germline mosaicism. This means that multiple siblings in a family inherited a disease-causing mutation from an unaffected parent who had the mutation in some or all of their egg or sperm cells only (not other body cells). This can cause a condition to appear autosomal recessive. Also, some other conditions with autosomal recessive inheritance and symptoms that overlap with Larsen syndrome have been diagnosed as Larsen syndrome, but are now mostly considered different conditions. These conditions are usually more severe and due to mutations in different genes.
Source: GARD
Topic: Progressive multifocal leukoencephalopathy
Question: What is (are) Progressive multifocal leukoencephalopathy ?
Answer: Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but it rarely causes symptoms unless the immune system becomes severely weakened. The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis.  PML is most common among individuals with acquired immune deficiency syndrome (AIDS).
Source: GARD
Topic: Progressive multifocal leukoencephalopathy
Question: What are the treatments for Progressive multifocal leukoencephalopathy ?
Answer: How might progressive multifocal leukoencephalopathy (PML) be treated? Currently, the best available therapy is reversal of the immune-deficient state. This can sometimes be accomplished by alteration of chemotherapy or immunosuppression. In the case of HIV-associated PML, immediately beginning anti-retroviral therapy will benefit most individuals.
Source: GARD
Topic: Noonan syndrome
Question: What is (are) Noonan syndrome ?
Answer: Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.
Source: GARD
Topic: Noonan syndrome
Question: Is Noonan syndrome inherited ?
Answer: How is Noonan syndrome inherited? Noonan syndrome is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of the responsible gene in each cell is enough to cause the condition. Each child of a person with Noonan syndrome has a 50% (1 in 2) chance to inherit the condition. In some cases, the condition is inherited from an affected parent. Because the features of the condition can vary and may be very subtle, many affected adults are diagnosed only after the birth of a more obviously affected infant. In other cases, the condition is caused by a new mutation occurring for the first time in the affected person.
Source: GARD
Topic: Noonan syndrome
Question: What are the treatments for Noonan syndrome ?
Answer: How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.
Source: GARD
Topic: Prolactinoma, familial
Question: What is (are) Prolactinoma, familial ?
Answer: A prolactinoma is a tumor of the pituitary gland, which controls production of many hormones.  A prolactinoma causes increased levels of the hormone prolactin.  The symptoms of prolactinoma may include unusual milk production (galactorrhea) or no menstrual cycles (amenorrhea) in women or decreased sex drive in men.  Most prolactinomas occur by chance (sporadically); in a small number of cases, prolactinoma may be associated with an inherited condition such as Multiple Endocrine Neoplasia type 1 (MEN1) or other genetic factor.
Source: GARD
Topic: Hypocomplementemic urticarial vasculitis syndrome
Question: What is (are) Hypocomplementemic urticarial vasculitis syndrome ?
Answer: Hypocomplementemic urticarial vasculitis (HUV) is a rare form of cutaneous small-vessel vasculitis characterized by recurrent episodes of urticaria and painful, tender, burning or itchy skin lesions, often associated with extracutaneous involvement but usually with no significant peripheral nerve damage. Patients with this condition are likely to have systemic involvement, including angioedema, arthralgias, pulmonary disease, abdominal or chest pain, fever, renal disease, and episcleritis. Hypocomplementemic urticarial vasculitis is thought be an autoimmune response involving a specific region of complement 1 (C1). It can present as or precede a syndrome that includes obstructive pulmonary disease , uveitis, systemic lupus erythematous (SLE), Sjgren's syndrome, or cryoglobulinemia (which is closely linked with hepatitis B or hepatitis C virus infection). Some cases of hypocomplementemic urticarial vasculitis respond to therapies commonly used for the treatment of SLE, including low-dose prednisone, hydroxychloroquine, dapsone, or other immunomodulatory agents.
Source: GARD
Topic: Hypocomplementemic urticarial vasculitis syndrome
Question: How to diagnose Hypocomplementemic urticarial vasculitis syndrome ?
Answer: How is hypocomplementemic urticarial vasculitis (HUV) diagnosed? What kind of tests are required? A diagnosis of hypocomplementemic urticarial vasculitis (HUV) syndrome is supported by findings from varied tests, such as skin biopsy, blood tests, physical and eye examinations, and urinalysis and kidney imaging studies (when glomerulonephritis is suspected).  People with HUV syndrome have hives (urticaria) for at least six months and low levels of proteins (complement) in the blood. Complement levels can be determined through a blood test. Click here to visit the American Association for Clinical Chemistry's Web site Lab Tests Online to learn more about this test.  In addition to these major criteria, people with HUV syndrome must also have at least two of the following minor criteria: Inflammation in the small veins of the dermis (diagnosed by biopsy) Joint pain or arthritis Mild glomerulonephritis Inflammation in the eye (uvea or episclera) Recurrent abdominal pain The presence of anti-C1q antibodies (this test is not widely available) Some people have urticarial vasculitis and low complement levels (hypocomplementemia), but do not meet diagnostic criteria for HUV syndrome. These individuals may be diagnosed as having HUV (where symptoms are limited to the skin), versus HUV syndrome. Differential diagnoses for HUV syndrome include, Schnitzler's syndrome, Cogan's syndrome, and Muckle-Wells syndrome.
Source: GARD
Topic: Boomerang dysplasia
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.
Source: GARD
Topic: Mixed connective tissue disease
Question: What is (are) Mixed connective tissue disease ?
Answer: Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresive drugs may help manage the symptoms.
Source: GARD
Topic: Mixed connective tissue disease
Question: What causes Mixed connective tissue disease ?
Answer: What causes mixed connective tissue disease? The exact underlying cause of mixed connective tissue disease (MCTD) is currently unknown. It is an autoimmune disorder, which means the immune system mistakes normal, healthy cells for those that that body should "fight off." There are ongoing studies exploring how immune system dysfunction may be involved in the development of this condition.
Source: GARD
Topic: Mixed connective tissue disease
Question: Is Mixed connective tissue disease inherited ?
Answer: Is mixed connective tissue disease inherited? The role of genetics in the onset of mixed connective tissue disease (MCTD) is still unclear. Some people with MCTD have family members who are also affected by the condition. This suggests that in some cases, an inherited predisposition may contribute to the development of MCTD. People with an inherited or genetic predisposition have an increased risk of developing a certain condition due to their genes.
Source: GARD
Topic: Mixed connective tissue disease
Question: How to diagnose Mixed connective tissue disease ?
Answer: How is mixed connective tissue disease diagnosed? Mixed connective tissue disease (MCTD) is often suspected after a physical examination reveals signs and symptoms associated with the condition. The diagnosis is supported by a blood test that shows high levels of antibodies associated with MCTD.
Source: GARD
Topic: Mixed connective tissue disease
Question: What are the treatments for Mixed connective tissue disease ?
Answer: How might mixed connective tissue disease be treated? There is currently no cure for mixed connective tissue disease (MCTD). However, treatments can help manage symptoms of the condition. For example, medications such as over-the-counter or prescription nonsteroidal anti-inflammatory drugs may help with inflammation and pain of the muscles or joints. Glucocorticoids may be recommended in certain situations, such as during disease flares or when complications arise (e.g., aseptic meningitis, myositis, pleurisy, pericarditis, and myocarditis). Some people with MCTD require long term use of immunosuppressant medications. Additional medications may be prescribed based on the signs and symptoms present in each person. For example, if a person with MCTD has developed symptoms similar to those of lupus, medications typically prescribed for people with lupus may be recommended. For additional information about the treatment of MCTD, visit the Mayo Foundation for Medical Education and Research Web site.
Source: GARD
Topic: Chromosome 5q deletion
Question: What is (are) Chromosome 5q deletion ?
Answer: Chromosome 5q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 5q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
Source: GARD