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Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… to be responsible for at least a half-dozen other genetic disorders, including two rare forms of muscular dystrophy. In … characterized by dramatic, premature aging. … Genetic Disorders …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… caused by a mutation in the FMR1 gene. … Genetic Disorders …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… Association - Cholesterol National Organization for Rare Disorders Online Mendelian Inheritance in Man eMedicine … at birth and heart attacks at an early age. … Genetic Disorders …
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.
… in post-menopausal, obese women of middle age. … Genetic Disorders …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… or SCID, is a term applied to a group of inherited disorders characterized by defects in both T and B cell … severe, genetic condition of the immune system. … Genetic Disorders …
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.
… syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's … The most common symptom is infertility. … Genetic Disorders …
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.
… of the fingers of the hand on the same side. … Genetic Disorders …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… in several respects. It exposes trainees to rare metabolic disorders that might not be seen in a more typical … the care and clinical research of patients with metabolic disorders. The residency program includes many didactic … in the medical management of patients with metabolic disorders. They diagnose, manage and counsel outpatients and …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… of, or no, alpha-1 antitrypsin in the blood. … Genetic Disorders …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… common syndrome associated with a cleft palate. … Genetic Disorders …