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Menkes disease phenotypic characteristics

Unconscious child with Menkes disease showing fair complexion, flat nasal bridge, and pudgy cheeks. The scalp hairs were noted to be sparse, thin, short, and light brown in color, giving a steel-wool appearance. (Source: Inamadar AC, Palit A. Neurodegenerative disorders with hair abnormalities: an emergency room consultation for dermatologists. Int J Trichology 2009;1(1):30-2. Creative Commons Attribution License.)

Associated Disorders

  • Distal motor neuropathy
  • Occipital horn syndrome