Menkes kinky-hair disease

Menkes kinky-hair disease
a genetic disorder characterized by severe mental retardation, seizures, poor vision, colourless fragile hair, and chubby red cheeks. There is no treatment and affected infants usually die before the age of three. [H. Menkes (1928– ), US neurologist]

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  • Menkes kinky-hair disease — a genetic disorder characterized by severe mental retardation, seizures, poor vision, colourless fragile hair, and chubby red cheeks. There is no treatment and affected infants usually die before the age of three. J. H. Menkes (1928 ), US… …   Medical dictionary

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  • Kinky hair syndrome — A genetic disorder, also known as Menkes syndrome, in which the hair is fragile and twisted ( kinky ) and there is progressive deterioration of the brain and arterial changes leading to death in infancy. The condition is an inborn error of… …   Medical dictionary

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  • Syndrome, kinky hair — A genetic disorder, also known as Menkes syndrome, in which the hair is fragile and twisted ( kinky ) and there is progressive deterioration of the brain and arterial changes leading to death in infancy. The condition is an inborn error of… …   Medical dictionary

  • Menkes' disease — Men·kes disease meŋ kəz , kə səz n a disorder of copper metabolism that is inherited as a recessive X linked trait and is characterized by a deficiency of copper in the liver and of copper containing proteins (as ceruloplasmin) which results in… …   Medical dictionary

  • Menkes syndrome — A genetic disorder, also known as kinky hair syndrome, in which the hair is fragile and twisted ( kinky ) and there is progressive deterioration of the brain and arterial changes leading to death in infancy. The condition is an inborn error of… …   Medical dictionary

  • Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   Medical dictionary

  • Menkes disease — an X linked recessive disorder of copper metabolism caused by mutations in the ATP7A gene (locus: Xq12 q13), which encodes a copper transporter. Features result from dysfunction of copper dependent enzymes and include sparse, brittle, twisted… …   Medical dictionary

  • Nail disease — or disorder Classification and external resources Onychia without granuloma ICD 10 L …   Wikipedia

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