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Menkes disease phenotypic characteristics (hair and head)

The phenotypic appearance of a child with Menkes disease showing light-colored, sparse, thin, fuzzy hair with easy pluckability; fair facial complexion; chubby cheeks; and irritability. (Source: Datta AK, Ghosh T, Nayak K, Ghosh M. Menkes kinky hair disease: a case report. Cases J 2008;1(1):158. Creative Commons Attribution License.)

Associated Disorders

  • Distal motor neuropathy
  • Occipital horn syndrome