Dictionary of Human Evolution and Biology

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Menkes Syndrome

Heritable disorder characterized by cerebral degeneration and atrophy, microscopically kinky gray hairs, abnormal facial features, and bone damage; death in early childhood. The cause is abnormal copper transport; the defective gene is for ATPase (ATP7A, an X-linked recessive); aka steely hair disease. Other diseases such as Ehlers-Danlos syndrome (occiput horn syndrome) may be allelic variants of this gene.

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