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Menkes disease phenotypic characteristics (head)

Characteristic appearance of a baby with Menkes disease showing fuzzy, sparse, thin scalp hairs; fair complexion; and large-appearing ears. (Source: Gandhi R, Kakkar R, Rajan S, Bhangale R, Desai S. Menkes kinky hair syndrome: a rare neurodegenerative disease. Case Rep Radiol 2012;2012:684309. Creative Commons Attribution License.)

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Associated Disorders

  • Distal motor neuropathy
  • Occipital horn syndrome