sarnsrun/medquad huggingface dataset:
Topic: Ehlers-Danlos syndrome, kyphoscoliosis type
Question: What are the treatments for Ehlers-Danlos syndrome, kyphoscoliosis type ?
Answer: How might Ehlers-Danlos syndrome, kyphoscoliosis type be treated? The treatment of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with hypotonia and delayed motor development. This treatment can also help improve joint stability. Assistive devices such as braces may be necessary depending on the severity of joint instability. Depending on the severity of the kyphoscoliosis (kyphosis and scoliosis), surgery may be necessary. Because EDS, kyphoscoliosis type is associated with fragile skin with abnormal wound healing, affected people, especially children, may need to wear protective bandages or pads over exposed areas, such as the knees, shins, and forehead. Regular follow-up may be recommended to check for development or progression of abnormalities of the eyes, cardiovascular system, and other parts of the body. GeneReview's Web site offers more specific information regarding the treatment and management of EDS, kyphoscoliosis type. Please click on the link to access this resource. Please speak to your healthcare provider if you have any questions about your personal medical management plan.
Source: GARD
Topic: Brachydactyly type A1
Question: What are the symptoms of Brachydactyly type A1 ?
Answer: What are the signs and symptoms of Brachydactyly type A1? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the thumb 90% Brachydactyly syndrome 90% Short hallux 90% Short stature 90% Cone-shaped epiphysis 50% Abnormality of the metacarpal bones 7.5% Abnormality of the ulna 7.5% Clinodactyly of the 5th finger 7.5% Scoliosis 7.5% Symphalangism affecting the phalanges of the hand 7.5% Talipes 7.5% Absent distal interphalangeal creases - Autosomal dominant inheritance - Broad metacarpal epiphyses - Broad palm - Distal symphalangism (hands) - Flattened metatarsal heads - Heterogeneous - Proportionate shortening of all digits - Radial deviation of the 2nd finger - Radial deviation of the 3rd finger - Radial deviation of the 4th finger - Short distal phalanx of finger - Short metacarpal - Short palm - Short proximal phalanx of hallux - Short proximal phalanx of thumb - Slender metacarpals - Thin proximal phalanges with broad epiphyses of the hand - 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: Linear porokeratosis
Question: What is (are) Linear porokeratosis ?
Answer: Linear porokeratosis is a skin condition that most often begins in infancy or early childhood, but it can occur at any age.  The main feature of this condition is the development of reddish brown, slightly raised markings on the skin arranged in lines or streaks on one side of the body.  These markings are not usually painful, though they can sometimes cause open sores in the skin.  There is up to an 11% chance that these markings could progress to skin cancer (basal cell cancer or squamous cell carcinoma) over time.  The exact cause of linear porokeratosis is unknown, but risk factors may include exposure to the sun or radiation, problems with the immune system (immunosuppression), or genetic predisposition.
Source: GARD
Topic: Linear porokeratosis
Question: What are the treatments for Linear porokeratosis ?
Answer: How might linear porokeratosis be treated? Because linear porokeratosis is a rare condition, there is no established treatment protocol.  Protection from sun exposure and regular visits to a doctor to check for skin cancer are encouraged as routine care.  Treatment options depend on the size, location, and severity of the characteristic skin markings.  Several medications (5-fluorouracil, acitretin) have been shown to be effective for treating this condition in a small number of patients.  We identified a single report of photodynamic therapy being used to successfully treat an individual with linear porokeratosis.  Surgery is recommended to remove any skin cancer that may develop.
Source: GARD
Topic: Cheilitis glandularis
Question: What is (are) Cheilitis glandularis ?
Answer: Cheilitis glandularis is a rare inflammatory disorder of the lip. It is mainly characterized by swelling of the lip with hyperplasia of the salivary glands; secretion of a clear, thick mucus; and variable inflammation. Enlargement and chronic exposure of the mucous membrane on the lower lip becomes affected by the environment, leading to erosion, ulceration, crusting, and, occasionally, infection. Cheilitis glandularis is more common in adult males, although cases have been described in women and children. In Caucasians, it is associated with a relatively high incidence of squamous cell carcinoma of the lip. Although there may be a genetic susceptibility, no definitive cause has been established. Treatment may include surgical excision by vermilionectomy (sometimes called a lip shave), but treatment varies for each individual.
Source: GARD
Topic: Cheilitis glandularis
Question: What are the symptoms of Cheilitis glandularis ?
Answer: What are the signs and symptoms of Cheilitis glandularis? The Human Phenotype Ontology provides the following list of signs and symptoms for Cheilitis glandularis. 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% Abnormality of the salivary glands 90% Thick lower lip vermilion 90% Autosomal dominant inheritance - Cheilitis - Squamous cell carcinoma - 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: Cheilitis glandularis
Question: What are the treatments for Cheilitis glandularis ?
Answer: How might cheilitis glandularis be treated? The approach to treatment for cheilitis glandularis is typically based on information obtained from histopathologic analysis (microscopic examination of the tissue); the identification of the likely causes responsible for the condition; and attempts to alleviate or eradicate those causes. Given the relatively small number of reported cases of the condition, there is not sufficient or reliable data that exists with regard to medical approaches. Therefore, treatment generally varies accordingly for each individual. For cases attributable to angioedema (swelling similar to hives beneath the skin), an antihistamine may help with temporary reduction of acute, nonpurulent (lacking pus) swelling. Suppurative cases (those with pus present) typically require management with appropriate antimicrobial treatment as determined by culture and sensitivity testing. Concomitant corticosteroid treatment may increase the effectiveness of antimicrobial therapy in cases with nodularity; however, the potential adverse effects of long-term corticosteroid treatment, and because it can promote local fibrosis and scarring, limit its potential use either as an adjunct to antibiotic treatment or as a single therapeutic modality. Topical 5-fluorouracil is useful for treatment of dysplastic actinic cheilitis and to curtail its progression. In conjunction with clinical supervision, it can be prescribed as an alternative to vermilionectomy (sometimes called a lip shave) or as a preventative measure following vermilionectomy. In cheilitis glandularis cases in which a history of chronic sun exposure exists (especially if the individual is fair skinned or the everted lip surface is chronically eroded, ulcerated, or crusted), biopsy is strongly recommended to rule out actinic cheilitis or carcinoma. Surgical excision is typically not necessary when the diagnosis is actinic cheilitis with atypia or only mild dysplasia; however, individuals require ongoing clinical vigilance at regular intervals and instruction in measures to protect the lips from further sun damage. Treatment options for cases of actinic cheilitis with moderate-to-severe dysplasia include surgical stripping or vermilionectomy, cryosurgery or laser surgery, or topical chemotherapy with 5-fluorouracil. Given the potential for recurrence and the risk for development of carcinoma, sun protective measures and regular clinical monitoring should be instituted. In cases in which eversion, extensive fibrosis, and induration have resulted in lip incompetence with functional and cosmetic compromise, chronic pain, and surface disruption, surgical cheiloplasty (lip reduction) may be indicated to restore normal lip architecture and function. Cheiloplasty is also a prophylactic measure for reducing the risk of actinic injury.
Source: GARD
Topic: Myelocytic leukemia-like syndrome, familial, chronic
Question: What are the symptoms of Myelocytic leukemia-like syndrome, familial, chronic ?
Answer: What are the signs and symptoms of Myelocytic leukemia-like syndrome, familial, chronic? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelocytic leukemia-like syndrome, familial, chronic. 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) Chronic myelogenous leukemia - 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: Intravenous leiomyomatosis
Question: What is (are) Intravenous leiomyomatosis ?
Answer: Intravenous leiomyomatosis (IVL) is a benign smooth muscle tumor of the uterus that grows within the veins but does not invade the surrounding tissue. IVL usually starts in the veins of the uterus and can extend into the inferior vena cava and ultimately into the right side of the heart, resulting in death The abnormal smooth muscle cells that cause IVL express estrogen and progesterone receptors and tumor growth thus appears to respond to these hormones. Although this is a benign condition, many affected individuals require surgery to remove the excess tissue in the uterus and heart. The exact cause of IVL remains unknown. IVL is rare, with only about 200 cases reported in the medical literature.
Source: GARD
Topic: Intravenous leiomyomatosis
Question: What are the symptoms of Intravenous leiomyomatosis ?
Answer: What are the signs and symptoms of intravenous leiomyomatosis? IVL most often does not cause detectable signs or symptoms. In fact, they may be found by chance during surgery. When symptoms do arise, they can include abnormal uterine bleeding, lower abdominal tenderness, ad venous thrombosis. When IVL in the uterus is exposed to venous blood that flows to the heart, it usually grows slowly and may reach the heart undetected. When IVL reaches the heart, it can result in pulmonary embolisms, cardiac failure, fainting, and in some cases, sudden death. Most people do not experience symptoms until the IVL reaches the heart.
Source: GARD
Topic: Intravenous leiomyomatosis
Question: What are the treatments for Intravenous leiomyomatosis ?
Answer: How might intravenous leiomyomatosis be treated? The mainstay of treatment for IVL is surgery to remove the tumor and its spread throughout the body. The use of anti-estrogen therapy, such as tamoxifen, has also been suggested. Surgery requires the complete removal of the tumor, since incomplete removal may result in a recurrence and hence further surgery or even death. Many affected individuals undergo a hysterectomy; bilateral oophorectomy is also suggested because these tumors are estrogen dependent. Part of a tumor left inside the pelvic veins at the time of hysterectomy can extend towards the right side of the heart, leading to obstruction and other adverse events later in life. The median time between hysterectomy to the diagnosis of IVL with cardiac involvement is 4 years. Once there is cardiac involvement, a patient may require open-heart surgery to remove the IVL from the affected areas.
Source: GARD
Topic: Absence of Tibia
Question: What is (are) Absence of Tibia ?
Answer: Absence of tibia is a rare birth defect that is characterized by deficiency of the tibia (the shinbone) with other bones of the lower leg relatively intact. The condition may affect one or both legs. Some cases are isolated birth defects, while others are associated with a variety of skeletal and other malformations. It can also be a part of a recognized syndrome such as Werner's syndrome, tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome, and CHARGE syndrome. The underlying cause is generally unknown. Although most isolated cases occur sporadically in people with no family history of the condition, absence of the tibia can rarely affect more than one family member. Treatment varies based on the severity of the condition, but generally involves surgery (i.e. amputation or reconstructive surgery with a prosthesis adapted to growth).
Source: GARD
Topic: Absence of Tibia
Question: What are the symptoms of Absence of Tibia ?
Answer: What are the signs and symptoms of Absence of Tibia? The Human Phenotype Ontology provides the following list of signs and symptoms for Absence of Tibia. 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) Absent tibia - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Chondrodysplasia, Grebe type
Question: What are the symptoms of Chondrodysplasia, Grebe type ?
Answer: What are the signs and symptoms of Chondrodysplasia, Grebe type? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia, Grebe type. 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 metacarpal bones 90% Adactyly 90% Bowing of the long bones 90% Brachydactyly syndrome 90% Limitation of joint mobility 90% Micromelia 90% Short stature 90% Short toe 90% Skeletal dysplasia 90% Synostosis of carpal bones 90% Tarsal synostosis 90% Abnormality of the fibula 50% Abnormality of the tibia 50% Aplasia/Hypoplasia of the thumb 50% Postaxial hand polydactyly 50% Acromesomelia - Aplasia/Hypoplasia involving the metacarpal bones - Aplasia/Hypoplasia of metatarsal bones - Aplasia/Hypoplasia of the patella - Autosomal recessive inheritance - Death in infancy - Disproportionate short-limb short stature - Fibular hypoplasia - Flexion contracture - Hypoplasia of the radius - Hypoplasia of the ulna - Short digit - Short femur - Short foot - Short humerus - Short phalanx of finger - Short tibia - Stillbirth - Valgus foot deformity - Valgus hand deformity - 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: Familial HDL deficiency
Question: What are the symptoms of Familial HDL deficiency ?
Answer: What are the signs and symptoms of Familial HDL deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial HDL deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of lipid metabolism 50% Abnormality of the liver 50% Anemia 50% EMG abnormality 50% Hemiplegia/hemiparesis 50% Lymphadenopathy 50% Splenomegaly 50% Autosomal dominant inheritance - Hypoalphalipoproteinemia - 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: Parkinson disease type 9
Question: What are the symptoms of Parkinson disease type 9 ?
Answer: What are the signs and symptoms of Parkinson disease type 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Parkinson disease type 9. 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) Distal sensory impairment 5% Seizures 5% Aggressive behavior - Akinesia - Anarthria - Anosmia - Autosomal recessive inheritance - Babinski sign - Dementia - Hallucinations - Hyperreflexia - Hypokinesia - Hyposmia - Mask-like facies - Myoclonus - Paraparesis - Parkinsonism - Parkinsonism with favorable response to dopaminergic medication - Postural instability - Psychotic episodes - Rapidly progressive - Rigidity - Slow saccadic eye movements - Spasticity - Supranuclear gaze palsy - Torticollis - 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