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Kallmann syndrome (KS) is a condition characterized primarily by hypogonadotropic hypogonadism (HH) and absent or diminished sense of smell (anosmia or hyposmia, respectively). HH is present from birth and is due to deficiency of gonadotropin-releasing hormone (GnRH). KS is often diagnosed at puberty due to lack of sex... |
Mutations in the ELANE gene cause cyclic neutropenia. The ELANE gene provides instructions for making a protein called neutrophil elastase, which is found in neutrophils. When the body starts an immune response to fight an infection, neutrophils release neutrophil elastase. This protein then modifies the function of ce... |
Primary lateral sclerosis (PLS) is a rare neuromuscular disease with slowly progressive weakness in voluntary muscle movement. PLS belongs to a group of disorders known as motor neuron diseases. PLS affects the upper motor neurons (also called corticospinal neurons) in the arms, legs, and face. It occurs when nerve cel... |
Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Hepatitis is an inflammation of the liver. Viruses cause most cases of hepatitis. The type of hepatitis is named for the virus that causes it; for example, hepatitis A, hepatitis B or hepatitis C. Dru... |
Familial HDL deficiency is inherited in an autosomal dominant pattern, which means an alteration in one copy of either the ABCA1 or the APOA1 gene in each cell is sufficient to cause the disorder. People with alterations in both copies of the ABCA1 gene develop the related disorder Tangier disease. |
Proteinuria has no signs or symptoms in the early stages. Large amounts of protein in the urine may cause it to look foamy in the toilet. Also, because protein has left the body, the blood can no longer soak up enough fluid, so swelling in the hands, feet, abdomen, or face may occur. This swelling is called edema. Thes... |
What are the signs and symptoms of Anterior polar cataract 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Anterior polar cataract 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 M... |
What causes Albright's hereditary osteodystrophy? Albright's hereditary osteodystophy is caused by mutations in the GNAS gene. Albright's hereditary osteodystrophy is transmitted as an autosomal dominant trait. The hormone resistance associated with Albright's hereditary osteodystrophy, in particular resistance to para... |
Most cases of essential thrombocythemia are not inherited. Instead, the condition arises from gene mutations that occur in early blood-forming cells after conception. These alterations are called somatic mutations. Less commonly, essential thrombocythemia is inherited in an autosomal dominant pattern, which means one ... |
Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory bowel disease. Crohn's can affect any area from the mouth to the anus. It often affects the lower part of the small intestine called the ileum. The cause of Crohn's disease is unknown. It may be due to a... |
A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born with a birth defect. A birth defect may affect how the body looks, works or both. Some birth defects like... |
Birth control, also known as contraception, is designed to prevent pregnancy. Birth control methods may work in a number of different ways: - Preventing sperm from getting to the eggs. Types include condoms, diaphragms, cervical caps, and contraceptive sponges. - Keeping the woman's ovaries from releasing eggs... |
Hypertrophic neuropathy of Dejerine-Sottas (Dejerine-Sottas syndrome) is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease (sometimes called type 3) that is characterized by sensory loss with ataxia in the limbs furthest from the body and pes cavus with progression towards ... |
How is Buschke Ollendorff syndrome inherited? Buschke Ollendorff syndrome (BOS) is caused by mutations in the LEMD3 gene and is inherited in an autosomal dominant manner. This means that only one changed (mutated) copy of the gene in each cell is sufficient for a person to be affected by the condition. An affected indi... |
Von Hippel-Lindau disease (VHL) is a rare, genetic disease that causes tumors and cysts to grow in your body. The tumors can be either cancerous or benign. They can grow in your brain and spinal cord, kidneys, pancreas and, in men, their genital tract. Symptoms of VHL vary and depend on the size and location of the tum... |
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. In some cases, indi... |
McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly), heart defects, and genital abnormalities. Most females with McKusick-Kaufman syndrome are born wi... |
Lung adenocarcinoma is a cancer that occurs due to abnormal and uncontrolled cell growth in the lungs. It is a subtype of non-small cell lung cancer that is often diagnosed in an outer area of the lung. Early lung cancers may not be associated with any signs and symptoms. As the condition progresses, affected people ca... |
These resources address the diagnosis or management of Walker-Warburg syndrome: - Gene Review: Gene Review: Congenital Muscular Dystrophy Overview - Genetic Testing Registry: Walker-Warburg congenital muscular dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various... |
Is Turner syndrome inherited? Most cases of Turner syndrome are not inherited. Most commonly, Turner syndrome occurs due to a random event during the formation of an egg or sperm cell in a parent (prior to conception). For example, if an egg or sperm cell mistakenly loses a sex chromosome, and joins at conception with ... |
Ohtahara syndrome is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures (which cause stiffening of muscles of the body, generally ... |
These resources address the diagnosis or management of 5q minus syndrome: - American Cancer Society: How are Myelodysplastic Syndromes Diagnosed? - Cancer.Net: MyelodysplasticSyndromes: Treatment Options - Genetic Testing Registry: 5q- syndrome - National Cancer Institute: FDA Approval for Lenalidomide These reso... |
People who repeatedly breathe in foreign substances are at risk for hypersensitivity pneumonitis (HP). These substances, which also are known as antigens, include molds, dusts, and chemicals. However, most people who breathe in these substances don't develop HP.
People at increased risk include:
... |
Currently, no medicines or treatments are known to prevent Alzheimer's disease, but scientists are studying many possibilities. These possibilities include lifestyle factors such as exercise and physical activity, a healthy diet, and mentally stimulating activities. In addition to lifestyle factors, scientists have fou... |
How might chronic inflammatory demyelinating polyneuropathy (CIDP) be treated? The standard therapies for CIDP appear to be equally effective and include: intravenous immune globulin (IVIG) - adds large numbers of antibodies to the blood plasma to reduce the effect of the antibodies that are causing the problem glucoco... |
Mutations in the TTPA gene cause ataxia with vitamin E deficiency. The TTPA gene provides instructions for making the -tocopherol transfer protein (TTP), which is found in the liver and brain. This protein controls distribution of vitamin E obtained from the diet (also called -tocopherol) to cells and tissues throughou... |
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to raise the risk of developing epilepsy. About 70 percent of people who inherit a mutation in the CHRNA2, CHRNA4, or CHRNB2 gene will develop seizures. In most cases, an affected person has... |
This condition is very rare; its prevalence is unknown. |
Scientists have not yet found a way to prevent medullary sponge kidney. However, health care providers can recommend medications and dietary changes to prevent future UTIs and kidney stones. |
Mabry syndrome is likely a rare condition, but its prevalence is unknown. More than 20 cases have been described in the scientific literature. |
These resources address the diagnosis or management of NOMID: - Genetic Testing Registry: Chronic infantile neurological, cutaneous and articular syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery... |
What are the signs and symptoms of mastocytic enterocolitis? According to the medical literature, signs and symptoms of mastocytic enterocolitis primarily include chronic, intractable diarrhea and abdominal pain. Other symptoms that have occasionally been reported include constipation, nausea, and/or vomiting. Although... |
There are no standard or over-the-counter tests for leukemia. Your doctor can request lab analyses for leukemia that include blood tests that check the levels and types of blood cells and look for changes in the shape of blood cells. The doctor may also look for signs of leukemia in the bone marrow or the fluid around ... |
Hemifacial spasm is a neuromuscular disorder characterized by frequent involuntary contractions (spasms) of the muscles on one side (hemi-) of the face (facial). The disorder occurs in both men and women, although it more frequently affects middle-aged or elderly women. It is much more common in the Asian population. T... |
How is nonspherocytic hemolytic anemia due to hexokinase deficiency inherited? Nonspherocytic hemolytic anemia due to hexokinase deficiency is inherited in an autosomal recessive manner. This means that a mutation in both copies of the gene associated with the condition must be present in order to be affected. The pare... |
Unless the syndrome results in other medical problems, treatment for endocrine dysfunction associated with pituitary malfunction is symptomatic and supportive. Individuals with primary ESS who have high levels of prolactin may be given bromocriptine. In some cases, particularly when spinal fluid drainage is observed, s... |
What are the signs and symptoms of Glutaric acidemia type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type III. 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... |
ALG6-CDG is caused by mutations in the ALG6 gene. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. Glycosylation is the process by which sugar molecules (monosaccharides) and complex chains of sugar molecules (oligosaccharides) are added to proteins and fats. Glyc... |
These resources address the diagnosis or management of 3MC syndrome: - Genetic Testing Registry: Carnevale syndrome - Genetic Testing Registry: Craniofacial-ulnar-renal syndrome - Genetic Testing Registry: Malpuech facial clefting syndrome - Genetic Testing Registry: Michels syndrome These resources from MedlineP... |
Retroperitoneal fibrosis occurs in 1 in 200,000 to 500,000 people per year. The disorder occurs approximately twice as often in men as it does in women, but the reason for this difference is unclear. |
These resources address the diagnosis or management of Bardet-Biedl syndrome: - Gene Review: Gene Review: Bardet-Biedl Syndrome - Genetic Testing Registry: Bardet-Biedl syndrome - MedlinePlus Encyclopedia: Obesity - MedlinePlus Encyclopedia: Polydactyly These resources from MedlinePlus offer information about the... |
These resources address the diagnosis or management of FXTAS: - Fragile X Research Foundation of Canada: FXTAS - Gene Review: Gene Review: FMR1-Related Disorders - Genetic Testing Registry: Fragile X tremor/ataxia syndrome - Merck Manual Consumer Version These resources from MedlinePlus offer information about th... |
All types of people are needed to volunteer for Alzheimers research. People with Alzheimer's disease or MCI, those with a family history of Alzheimers, and healthy people with no memory problems and no family history of Alzheimers may be able to take part in clinical trials. Participants in clinical trials help scienti... |
Spastic paraplegia 11 is a form of hereditary spastic paraplegia. People with spastic paraplegia 11 experience progressive muscle stiffness and eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms. The tissue connecting the left and right halves of the brain (corpus callosum) is abnorm... |
These resources address the diagnosis or management of TK2-related mitochondrial DNA depletion syndrome, myopathic form: - Cincinnati Children's Hospital: Mitochondrial Diseases Program - Gene Review: Gene Review: TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form These resources from MedlinePlus offe... |
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
Creutzfeldt-Jakob disease (CJD) is a rare fatal brain disorder that usually occurs later in life and runs a rapid course. In the early stages of the disease, patients may have failing memory, behavior changes, impaired coordination, and vision problems. As CJD progresses, mental deterioration becomes severe, and they c... |
Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. People with Down syndrome can have physical problems, as well as intellectual disabilities. Every person born with Down syndrome is different. People with the syndrome may also have other health problems. They may be born wit... |
How might bronchiolitis obliterans organizing pneumonia (BOOP) be treated? Most cases of BOOP respond well to treatment with corticosteroids. If the condition is caused by a particular drug, stopping the drug can also improve a patient's condition. Other medications reported in the medical literature to be beneficial f... |
These resources address the diagnosis or management of familial dilated cardiomyopathy: - Cincinnati Children's Hospital - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Gene Review: Gene Review: Dystrophinopathies - Gene Review: Gene Review: LMNA-Related Dilated Cardiomyopathy - MedlinePlus Encyclope... |
How might nodular nonsuppurative panniculitis be treated? Treatment for nodular nonsuppurative panniculitis (NNP) generally aims at controlling and relieving the symptoms that an individual has. Before treatment is initiated, a work-up should be completed to determine whether the condition is secondary to another under... |
The NINDS conducts a wide range of research on headache disorders. This research aims to discover ways to better diagnose, treat, and ultimately, prevent these disorders. |
Fukuyama congenital muscular dystrophy is seen almost exclusively in Japan, where it is the second most common form of childhood muscular dystrophy (after Duchenne muscular dystrophy). Fukuyama congenital muscular dystrophy has an estimated incidence of 2 to 4 per 100,000 Japanese infants. |
These resources address the diagnosis or management of Aicardi syndrome: - Baylor College of Medicine - Gene Review: Gene Review: Aicardi Syndrome - Genetic Testing Registry: Aicardi's syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Di... |
Scientists do not fully understand the cause of medullary sponge kidney or why cysts form in the tubules during fetal development. Even though medullary sponge kidney is present at birth, most cases do not appear to be inherited. |
What are the signs and symptoms of lipodermatosclerosis? Lipodermatosclerosis refers to changes in the skin of the lower legs. One or both legs may be involved. Signs and symptoms vary but may include: Pain Hardening and/or thickening of the skin Varicose veins Changes in skin color (redness) Small white scarred areas ... |
Mutations in the SLC12A6 gene cause Andermann syndrome. The SLC12A6 gene provides instructions for making a protein called a K-Cl cotransporter. This protein is involved in moving charged atoms (ions) of potassium (K) and chlorine (Cl) across the cell membrane. The positively charged potassium ions and negatively charg... |
Diabetes is a very serious disease. Over time, diabetes that is not well managed causes serious damage to the eyes, kidneys, nerves, and heart, gums and teeth. If you have diabetes, you are more likely than someone who does not have diabetes to have heart disease or a stroke. People with diabetes also tend to develop h... |
What causes adult-onset vitelliform dystrophy? Historically, adult-onset vitelliform macular dystrophy (AVMD) was defined as a genetic disorder; however, recent studies have concluded that only a minority of cases have an identified genetic cause, suggesting that there might be other underlying causes of environmental ... |
This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell may or may not cause the disorder. In males (who have... |
The incidence of Marfan syndrome is approximately 1 in 5,000 worldwide. |
How is glycogen storage disease type 13 diagnosed? Glycogen storage disease type 13 is diagnosed by taking a sample of muscle tissue (muscle biopsy) to determine if there is enough of the chemical enolase working in the muscle cells. Genetic testing can also be done to look for changes (mutations) in the ENO3 gene. |
How is Lynch syndrome diagnosed? The diagnosis of Lynch syndrome can be made on the basis of the Amsterdam clinical criteria or on the basis of molecular genetic testing for germline mutations in one of several mismatch repair (MMR) genes. To read detailed diagnostic strategies, click here. |
What are the signs and symptoms of Torticollis, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Torticollis, familial. 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 D... |
Cherubism is a rare disorder characterized by abnormal bone tissue in the lower part of the face. The enlarged bone is replaced with painless, cyst-like growths that give the cheeks a swollen, rounded appearance and frequently interfere with normal tooth development. The condition may be mild or severe. People with the... |
What causes congenital adrenal hyperplasia? Congenital adrenal hyperplasia (CAH) is a group of genetic conditions that can be caused by a change (mutation) in several different genes: 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene 3-beta-hydroxysteroid dehydrogenase deficiency is caused by mutatio... |
Cancer prevention clinical trials are used to study ways to prevent cancer.
Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increa... |
What are the signs and symptoms of Autosomal dominant caf au lait spots ? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant caf au lait spots . If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... |
The worldwide prevalence of familial hemiplegic migraine is unknown. Studies suggest that in Denmark about 1 in 10,000 people have hemiplegic migraine and that the condition occurs equally in families with multiple affected individuals (familial hemiplegic migraine) and in individuals with no family history of the cond... |
Late-onset familial Alzheimer disease is a form of familial Alzheimer disease that begins after age 65. In general, Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgement and the ability to function socially. The exact underlying cause of late-onset familial AD is no... |
Acanthamoeba is a microscopic, free-living ameba (single-celled living organism) commonly found in the environment that can cause rare, but severe, illness. Acanthamoeba causes three main types of illness involving the eye (Acanthamoeba keratitis), the brain and spinal cord (Granulomatous Encephalitis), and infections ... |
- Diabetes is the leading cause of chronic kidney disease (CKD) and kidney failure in the United States. - People with diabetes should be screened regularly for kidney disease. The two key markers for kidney disease are estimated glomerular filtration rate (eGFR) and urine albumin. - Drugs used to lower blood pressur... |
These resources address the diagnosis or management of Usher syndrome: - Gene Review: Gene Review: Usher Syndrome Type I - Gene Review: Gene Review: Usher Syndrome Type II - Genetic Testing Registry: Usher syndrome type 2 - Genetic Testing Registry: Usher syndrome, type 1 - Genetic Testing Registry: Usher syndrome... |
Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder characterized by developmental delay and abnormalities of the head and face. Affected people are usually born with a small head that does not grow at the same rate as the body (progressive microcephaly). Developmental delay and intellectual disability ca... |
Systemic sclerosis ine scleroderma is a type of systemic scleroderma that is characterized by Raynaud's phenomenon and the buildup of scar tissue (fibrosis) on one or more internal organs but not the skin. While the exact cause of sine scleroderma is unknown, it is believed to originate from an autoimmune reaction whic... |
Eales disease is a rare vision disorder that appears as an inflammation and white haze around the outercoat of the veins in the retina. This condition is most common among young males and normally affects both eyes. In most cases, vision becomes suddenly blurred because the vitreous, the clear jelly that fills the eyeb... |
Prediabetes is a condition in which blood glucose or A1C levelswhich reflect average blood glucose levelsare higher than normal but not high enough for a diagnosis of diabetes. Prediabetes is becoming more common in the United States. The U.S. Department of Health and Human Services estimates that at least 86 million U... |
How might Baylisascaris infection be treated? No drug has been found to be completely effective in treating Baylisascaris infections in humans. Albendazole is currently considered to be the drug of choice. Corticosteroids may also be given to reduce inflammation. In many cases, significant damage has already occurred b... |
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
What are the signs and symptoms of Renal tubular acidosis with deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular acidosis with deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... |
Myasthenia gravis affects about 20 per 100,000 people worldwide. The prevalence has been increasing in recent decades, which likely results from earlier diagnosis and better treatments leading to longer lifespans for affected individuals. |
CHARGE syndrome occurs in approximately 1 in 8,500 to 10,000 individuals. |
Summary : When your kidneys are healthy, they clean your blood. They also make hormones that keep your bones strong and your blood healthy. When your kidneys fail, you need treatment to replace the work your kidneys used to do. Unless you have a kidney transplant, you will need a treatment called dialysis. There are... |
A coma is a deep state of unconsciousness. An individual in a coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as brain injury. A coma rarely lasts more than 2 to 4 weeks. The outcome for coma depends on... |
Sialic acid storage disease is a very rare disorder. ISSD has been identified in only a few dozen infants worldwide. Salla disease occurs mainly in Finland and Sweden and has been reported in approximately 150 people. A few individuals have been identified as having intermediate severe Salla disease. |
- Diabetic neuropathies are nerve disorders caused by many of the abnormalities common to diabetes, such as high blood glucose. - Neuropathy can affect nerves throughout the body, causing numbness and sometimes pain in the hands, arms, feet, or legs, and problems with the digestive tract, heart, sex organs, and other ... |
Summary : A heart transplant removes a damaged or diseased heart and replaces it with a healthy one. The healthy heart comes from a donor who has died. It is the last resort for people with heart failure when all other treatments have failed. The heart failure might have been caused by coronary heart disease, damaged h... |
Your throat is a tube that carries food to your esophagus and air to your windpipe and larynx (also called the voice box). The technical name for the throat is pharynx. You can have a sore throat for many reasons. Often, colds and flu cause sore throats. Other causes can include: - Allergies - Mononucleosis... |
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. However, some affected individuals inherit the mu... |
Benign essential blepharospasm affects an estimated 20,000 to 50,000 people in the United States. For unknown reasons, it occurs in women more than twice as often as it occurs in men. |
Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to th... |
Mutations in the CPT1A gene cause CPT I deficiency. This gene provides instructions for making an enzyme called carnitine palmitoyltransferase 1A, which is found in the liver. Carnitine palmitoyltransferase 1A is essential for fatty acid oxidation, which is the multistep process that breaks down (metabolizes) fats and ... |
Early-onset, autosomal dominant Alzheimer disease is a form of Alzheimer disease (AD) that develops before the age of 65. In general, AD is a degenerative disease of the brain that causes gradual loss of memory, judgement, and the ability to function socially. The early-onset, autosomal dominant form of AD is caused by... |
How is punctate palmoplantar keratoderma type I inherited? Punctate palmoplantar keratoderma type I is usually inherited in an autosomal dominant manner. Autosomal dominant inheritance is when only one mutated copy of a disease-causing gene in each cell is sufficient for a person to be affected. An autosomal dominant c... |
Diabetes and high blood pressure are the most common causes of kidney failure. Other factors include heart and blood vessel disease and a family history of kidney failure. African Americans, Hispanics/Latinos, and American Indians are more likely to have kidney failure. |
These resources address the diagnosis or management of phosphoglycerate kinase deficiency: - Children Living with Inherited Metabolic Diseases (CLIMB) (UK): Phosphoglycerate Kinase Deficiency - Genetic Testing Registry: Deficiency of phosphoglycerate kinase - Genetic Testing Registry: Phosphoglycerate kinase 1 defic... |
How might epidermolysis bullosa acquisita be treated? |
The most common sign of childhood soft tissue sarcoma is a painless lump or swelling in soft tissues of the body. A sarcoma may appear as a painless lump under the skin, often on an arm, a leg, or the trunk. There may be no other signs or symptoms at first. As the sarcoma gets bigger and presses on nearby organs, nerve... |
Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body's connective tissue.
Most people who have Marfan syndrome inherit it from their parents. If you have t... |
The reported incidence of familial adenomatous polyposis varies from 1 in 7,000 to 1 in 22,000 individuals. |
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