kinky-hair disease

(redirected from Trichopoliodystrophy)

kink·y-hair dis·ease

, kinky hair disease [MIM*309400]
an inborn error of copper metabolism, onset within a few weeks of birth; manifested by short, sparse, poorly pigmented kinky hair; failure to thrive; development of seizures; spasticity; and progressive mental deterioration leading to death. X-linked recessive inheritance due to a defect of copper transport, caused by mutation in the Menkes gene (MNK), which encodes a copper-transporting ATPase on Xq.
Farlex Partner Medical Dictionary © Farlex 2012

kink·y-hair dis·ease

(kingk'ē-hār' di-zēz')
An inborn error of copper metabolism with onset within a few weeks of birth; manifested by short, sparse, poorly pigmented kinky hair; failure to thrive; development of seizures; spasticity; and progressive mental deterioration leading to death. X-linked recessive inheritance due to a defect of copper transport, caused by mutation in the Menkes gene (MNK), which encodes a copper-transporting ATPase on Xq.
Synonym(s): Menkes syndrome.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
References in periodicals archive ?
Menkes disease (MD) (OMIM: 309400) is also known as kinky hair disease, trichopoliodystrophy, and steely hair.
Menkes disease (MD)(OMIM: 309400) is also known as kinky hair disease, trichopoliodystrophy, and steely hair.1 It is a rare disorder with frequency being estimated to be 1 in 114,000-250,000 live births.2 Menkes disease is diagnosed on the basis of history, physical findings and lab investigations including copper and ceruloplasmin level as well as hair shaft microscopy.3 Mutation analysis leads to the definitive diagnosis.