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Menkes Kinky Hair Syndrome

An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)

Year introduced: 2000(1977)

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Tree Number(s): C10., C10.597.606.360.455.687, C16.320.322.500.687, C16.320.400.525.687, C16.320.565.189.540, C16.320.565.618.590, C17.800.329.968, C18.452.132.100.540, C18.452.648.189.540, C18.452.648.618.590

MeSH Unique ID: D007706

Entry Terms:

  • Menkes Syndrome
  • Steely Hair Syndrome
  • Steely Hair Syndromes
  • Syndromes, Steely Hair
  • Syndrome, Steely Hair
  • Hypocupremia, Congenital
  • Congenital Hypocupremias
  • Hypocupremias, Congenital
  • Congenital Hypocupremia
  • Kinky Hair Disease
  • Diseases, Kinky Hair
  • Hair Diseases, Kinky
  • Kinky Hair Diseases
  • Menkes Disease
  • Menkes' Disease
  • Diseases, Menkes'
  • Menkes' Diseases
  • Steely Hair Disease
  • Diseases, Steely Hair
  • Disease, Steely Hair
  • Hair Diseases, Steely
  • Steely Hair Diseases
  • Menkea Syndrome
  • Menkea Syndromes
  • Syndrome, Menkea
  • Syndromes, Menkea
  • Copper Transport Disease
  • Copper Transport Diseases
  • Disease, Copper Transport
  • Diseases, Copper Transport
  • Transport Disease, Copper
  • Transport Diseases, Copper
  • Kinky Hair Syndrome
  • X-Linked Copper Deficiency
  • Copper Deficiencies, X-Linked
  • Copper Deficiency, X-Linked
  • Deficiencies, X-Linked Copper
  • Deficiency, X-Linked Copper
  • X-Linked Copper Deficiencies
  • X Linked Copper Deficiency

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