Menkes Kinky Hair Syndrome (also known as Menkes Syndrome, Steely 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 impa

NIH MeSH · D007706Diseases

Menkes Kinky Hair Syndrome

Also known asMenkes 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

Definition

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)

MeSH classification

  • C10.228.140.163.100.540
  • 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

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Common questions about Menkes Kinky Hair Syndrome

What does Menkes Kinky Hair Syndrome mean in medicine?
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) This definition is taken from the National Library of Medicine's MeSH (Medical Subject Headings) 2026 release, which is the standard vocabulary used to index PubMed and most medical literature.
Is Menkes Kinky Hair Syndrome known by any other names?
Yes. Menkes Kinky Hair Syndrome is also referred to as Menkes Syndrome, Steely Hair Syndrome, Steely Hair Syndromes, Syndromes, Steely Hair in different clinical, research and patient-facing contexts. The MeSH descriptor groups all of these synonyms under a single canonical concept so research and records stay consistent.
Where does Menkes Kinky Hair Syndrome sit in the medical classification?
Menkes Kinky Hair Syndrome falls under the broader medical category "Diseases" in the MeSH hierarchy (tree numbers: C10.228.140.163.100.540, C10.597.606.360.455.687, C16.320.322.500.687). Browsing the related concepts on this page takes you to neighbouring topics in the same branch of medicine.
Where can I get a plain-language explanation of Menkes Kinky Hair Syndrome?
For a plain-language explanation of Menkes Kinky Hair Syndrome - including symptoms, treatments and what it means for an Indian patient - ask GoDavaii's Health AI. It works in 22+ Indian languages, is free and needs no signup. Tap "Ask GoDavaii AI about Menkes Kinky Hair Syndrome" above.

Source: NIH MeSH 2026 (D007706) — National Library of Medicine, public domain. View official MeSH record ↗