Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Gardner syndrome ? 
 What are the signs and symptoms of Gardner syndrome? The signs and symptoms of Gardner syndrome vary from person to person. It is a form of familial adenomatous polyposis (FAP), which is characterized primarily by hundreds to thousands of noncancerous (benign) polyps in the colon that begin to appear at an average age of 16 years. Unless the colon is removed, these polyps will become malignant (cancerous), leading to early-onset colorectal cancer at an average age of 39 years. Other features of Gardner syndrome may include: Dental abnormalities Fundic gland or adenomatous polyps of the stomach Adenomatous polyps of the small intestines Osteomas (benign bone growths) Congenital hypertrophy of the retinal pigment epithelium (a flat, pigmented spot within the outer layer of the retina) Benign skin abnormalities such as epidermoid cysts, fibromas (a benign tumor of the connective tissue), and lipomas Adrenal masses Desmoid tumors Other types of cancer (small bowel, stomach, pancreas, thyroid, central nervous system, liver, bile ducts, and/or adrenal gland) The Human Phenotype Ontology provides the following list of signs and symptoms for Gardner 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) Adenomatous colonic polyposis 90% Intestinal polyposis 90% Duodenal polyposis 50% Neoplasm of the colon 50% Colon cancer 33% Multiple gastric polyps 33% Adrenocortical adenoma 13% Carious teeth 7.5% Congenital hypertrophy of retinal pigment epithelium 7.5% Delayed eruption of teeth 7.5% Epidermoid cyst 7.5% Fibroadenoma of the breast 7.5% Increased number of teeth 7.5% Irregular hyperpigmentation 7.5% Multiple lipomas 7.5% Neoplasm of the nervous system 7.5% Odontogenic neoplasm 7.5% Osteoma 7.5% Sarcoma 7.5% Unerupted tooth 7.5% Hepatoblastoma 1.6% Medulloblastoma 1% Duodenal adenocarcinoma % Papillary thyroid carcinoma % Adrenocortical carcinoma - Astrocytoma - Autosomal dominant inheritance - Hyperpigmentation of the skin - Keloids - Odontoma - Small intestine carcinoid - Variable expressivity - 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.
What causes Gardner syndrome ? 
 What causes Gardner syndrome? Gardner syndrome is caused by changes (mutations) in the APC gene, which is called a "tumor suppressor." Tumor suppressor genes encode proteins that are part of the system that controls cell growth and division. These proteins ensure that cells do not grow and divide too quickly or in an abnormal manner. Mutations in the APC gene lead to uncontrolled cell growth which results in the development of the polyps, tumors and cancers that can be associated with Gardner syndrome. The symptoms found in each person and the severity of the condition depend on which part of the APC gene is mutated.
Is Gardner syndrome inherited ? 
 How is Gardner syndrome inherited? Gardner syndrome is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with Gardner syndrome has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
How to diagnose Gardner syndrome ? 
 Is genetic testing available for Gardner syndrome? Yes, genetic testing is available for APC, the gene known to cause Gardner syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. Because colon screening for those at risk for Gardner syndrome begins as early as age ten years, genetic testing is generally offered to children by this age. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. 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. How is Gardner syndrome diagnosed? Gardner syndrome is diagnosed based on the following features: At least 100 colorectal polyps OR fewer than 100 polyps and a family member with Familial Adenomatous Polyposis or Gardner syndrome Osteomas (bony growths) Soft tissue tumors such as epidermoid cysts, fibromas, and desmoid tumors These symptoms are usually identified using a combination of physical examination, colonoscopy, and X-rays of the long bones and/or jaw bone. The presence of other signs and symptoms such as stomach or small intestinal polyps; congenital hypertrophy of the retinal pigment epithelium (a flat, pigmented spot within the outer layer of the retina); and/or associated cancers, supports the diagnosis. A diagnosis of Gardner syndrome can be confirmed by the identification of a disease-causing change (mutation) in the APC gene.
What are the treatments for Gardner syndrome ? 
 How might Gardner syndrome be treated? Although there is no cure for Gardner syndrome, treatment and management options are available to reduce the risk of cancer. For example, affected people typically undergo regular screening for the various polyps and tumors associated with Gardner syndrome to permit early diagnosis and treatment. This screening regimen may include: Sigmoidoscopy or colonoscopy every one to two years, beginning at age ten to 12 years. Once polyps are detected, colonoscopy is recommended annually until colectomy (removal of colon). EGD (esophagogastroduodenoscopy) beginning by age 25 and repeated every one to three years. Annual physical examination, including a thorough thyroid evaluation beginning in the late teenage years. Screening for desmoid tumors and hepatoblastoma (a specific type of liver cancer that is diagnosed in young children) may also be recommended in some people. A colectomy is usually recommended when more than 20 or 30 polyps and/or multiple advanced polyps are identified. Sulindac, a nonsteroidal anti-inflammatory drug (NSAIDs), is sometimes prescribed in people with Gardner syndrome who have had a colectomy to treat polyps in the remaining rectum. Treatment for desmoid tumors varies depending on the size and location of the tumor, but may include watchful waiting, surgery, NSAIDS, anti-estrogen medications, chemotherapy and/or radiation therapy. Osteomas (bony growths) may be removed for cosmetic reasons. Treatment of epidermoid cysts in Gardner syndrome is similar to that used for ordinary cysts and involves excision. For more information on the treatment and management of Gardner syndrome, please click here.
What is (are) Apert syndrome ? 
 Apert syndrome is a disorder mainly characterized by craniosynostosis (premature fusion of skull bones, causing abnormalities in the shape of the head and face) and syndactyly (fusion or webbing or fingers and/or toes). Other signs and symptoms may include distinctive facial features (bulging and wide-set eyes; a beaked nose; an underdeveloped upper jaw leading to crowded teeth and other dental problems; and shallow eye sockets which can cause vision problems); polydactyly; hearing loss; hyperhidrosis (increased sweating); and other symptoms. Cognitive abilities in affected individuals range from normal to mild or moderate intellectual disability. It is caused by mutations in the FGFR2 gene and is inherited in an autosomal dominant manner. Management typically includes various surgical procedures that are tailored to the affected individual's needs.
How to diagnose Apert syndrome ? 
 How is Apert syndrome diagnosed? Is genetic testing needed to confirm the diagnosis? Apert syndrome and the other conditions associated with FGFR-related craniosynostosis were clinically defined long before the molecular basis of this group of disorders was discovered. Apert syndrome can be diagnosed primarily based on the following clinical findings: Turribrachycephalic skull shape (cone-shaped or towering skull) which is observable clinically and can be confirmed by skull radiograph or head CT examination; Characteristic facial features including moderate-to-severe underdevelopment of the midface, bulging and wide-set eyes, beaked nose, underdeveloped jaw and shallow eye sockets;  Variable hand and foot findings such as syndactyly of the fingers and toes and polydactyly. While clinical findings are suggestive of Apert syndrome, molecular genetic testing can help to confirm the diagnosis. Fibroblast growth factor receptor type 2 (FGFR2) sequence analysis is highly sensitive for Apert syndrome. More than 98% of cases are caused by a specific mutation in the 7th exon of the gene encoding FGFR2. The remaining cases are due to another specific mutation in or near exon 9 of FGFR2.  GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
What is (are) Progressive transformation of germinal centers ? 
 Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy).  Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes.  The neck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits.  Adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence).  PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma.
What causes Progressive transformation of germinal centers ? 
 What causes progressive transformation of germinal centers?  Is it genetic? The cause of progressive transformation of germinal centers (PTGC) is currently unknown.  Also, there is no evidence in the medical literature that PTGC is a genetic condition.
What are the treatments for Progressive transformation of germinal centers ? 
 What treatment is available for progressive transformation of germinal centers? Because progressive transformation of germinal centers (PTGC) is considered a benign condition and usually has no symptoms other than the enlarged lymph node, no treatment is necessary. The enlarged lymph node may stay the same size or shrink over time.  Affected individuals should have regular follow-up visits with their physician; a biopsy should be taken of any new enlarged lymph node because PTGC is associated with Hodgkin lymphoma in some individuals.
What is (are) Scurvy ? 
 Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Treatment consists of vitamin C supplements taken by mouth.
What are the symptoms of Scurvy ? 
 What are the signs and symptoms of Scurvy? The Human Phenotype Ontology provides the following list of signs and symptoms for Scurvy. 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 metabolism/homeostasis - 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.
What is (are) Exstrophy-epispadias complex ? 
 Exstrophy-epispadias complex (EEC) comprises a spectrum of congenital abnormalities that includes epispadias, classical bladder exstrophy and exstrophy of the cloaca and several variants. EEC is characterized by a visible defect of the lower abdominal wall and other problems. The defect occurs due to a rupture of a fetal tissue known as the cloacal membrane during the first trimester of pregnancy. This results in the abnormal development of the abdominal wall of the fetus. The exact timing of the rupture determines whether the child is born with isolated epispadias, classic bladder exstrophy or cloacal exstrophy. Therefore, depending on severity, EEC may involve the urinary system, musculoskeletal system, pelvis, pelvic floor, abdominal wall, genitalia, and sometimes the spine and anus. There is no known cause for this condition. Treatment may involve several surgeries to repair the abdominal wall and any associated malformation. The University of Michigan has a webpage about the development of the embryo and its parts, including the formation of the cloaca.
What are the symptoms of Cardioauditory syndrome of Sanchez Cascos ? 
 What are the signs and symptoms of Cardioauditory syndrome of Sanchez Cascos? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardioauditory syndrome of Sanchez Cascos. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hearing impairment - Increased dermatoglyphic whorls - Ventricular hypertrophy - 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.
What are the symptoms of Johnson Munson syndrome ? 
 What are the signs and symptoms of Johnson Munson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnson Munson 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) Adactyly 90% Split foot 90% Vertebral segmentation defect 90% Abnormality of female external genitalia 50% Abnormality of pelvic girdle bone morphology 50% Abnormality of the metacarpal bones 50% Anonychia 50% Aplasia/Hypoplasia of the lungs 50% Asymmetry of the thorax 50% Elbow dislocation 50% Finger syndactyly 50% Oligohydramnios 50% Patent ductus arteriosus 50% Renal hypoplasia/aplasia 50% Toe syndactyly 50% Vaginal fistula 50% Aphalangy of hands and feet - Aphalangy of the hands - Aplasia of the phalanges of the toes - Autosomal recessive inheritance - Hemivertebrae - Pulmonary hypoplasia - 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.
What are the symptoms of Autosomal recessive axonal neuropathy with neuromyotonia ? 
 What are the signs and symptoms of Autosomal recessive axonal neuropathy with neuromyotonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive axonal neuropathy with neuromyotonia. 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 foot - Autosomal recessive inheritance - Elevated serum creatine phosphokinase - Fasciculations - Foot dorsiflexor weakness - Hyperhidrosis - Muscle cramps - Muscle stiffness - Myokymia - Myotonia - Progressive - Sensory axonal neuropathy - Skeletal muscle atrophy - 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.
What are the symptoms of Omodysplasia 2 ? 
 What are the signs and symptoms of Omodysplasia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Omodysplasia 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 the metacarpal bones 90% Cryptorchidism 90% Elbow dislocation 90% Limb undergrowth 90% Depressed nasal bridge 50% Frontal bossing 50% Hypertelorism 50% Hypoplasia of penis 50% Long philtrum 50% Malar flattening 50% Scrotal hypoplasia 50% Short nose 50% Abnormality of female internal genitalia 7.5% Brachydactyly syndrome 7.5% Patellar dislocation 7.5% Autosomal dominant inheritance - Bifid nasal tip - Dislocated radial head - Hypoplastic distal humeri - Hypospadias - Limited elbow flexion/extension - Micropenis - Rhizomelic arm shortening - Short 1st metacarpal - Short humerus - 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.
What is (are) Barber Say syndrome ? 
 Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It has been described in less than 20 patients in the medical literature. Barber Say syndrome has a variable presentation, with reports of both mild and severe cases. Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive. A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene. Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach.