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Menkes syndrome

  • Alternative Names

    Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease


    Symptoms
    • Bone spurs
    • Brittle, kinky hair
    • Feeding difficulties
    • Irritability
    • Lack of muscle tone, floppiness (hypotonia)
    • Low body temperature
    • Mental deterioration
    • Pudgy, rosy cheeks
    • Seizures
    • Skeletal changes

    Signs and tests

    There is often a history of Menkes syndrome in a male relative.

    Signs include:

    • Abnormal appearance of the hair under the microscope
    • Abnormally low body temperature
    • Bleeding in the brain
    • Slow growth in the womb

    In males, all of the hairs will be abnormal. In females who carry this trait, only half of the hairs may be abnormal.

    Tests include:

    • Serum ceruloplasmin
    • Serum copper level
    • Skin cell (fibroblast) culture
    • X-ray of the skeleton or x-ray of the skull

    Genetic testing may show a change (mutation) in the ATP7A gene.