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Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… behavioral, and/or psychiatric disorders including autism, attention deficit disorder, obsessive compulsive disorder, anxiety disorders, …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… serves to reassure parents of affected children that their disorder stems from a sporadic genetic mutation and that …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… Affected boys may have behavioral problems such as hyperactivity, hand flapping, hand biting, temper tantrums … is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex … most cases, males experience more severe symptoms of the disorder than females. A striking characteristic of X-linked …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… have suggested that Dercum disease is an autoimmune disorder (a condition that occurs when the body's immune …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… in their 40's to 50's, and 85 percent of men with the disorder have a heart attack by age 60. Women who have …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… SCID, commonly called ADA SCID, is a very rare genetic disorder. It is caused by a mutation in the gene that encodes …
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
… is more severe, hand and arm abnormalities make the disorder more apparent early in life. The most viable …