Menkes syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Hypotonia

Menkes syndrome

Alternative Names:

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

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

Signs and tests:

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There is often a history of Menkes syndrome in a male relative. Signs include slow growth in the womb, abnormally low body temperature, bleeding in the brain and abnormal appearance of the hair under the microscope. Males will have all of their hairs show abnormal structure but females who are carriers of this trait may show only half the hairs to be abnormal.

The following tests may help diagnose the condition:

X-ray of the skeleton or x-ray of the skull may show abnormal bone appearance (Wormian bones, metaphyseal widening)
Serum copper level may be low
Copper level in cultured skin cells (fibroblasts) is elevated up to 5 times normal level
Serum ceruloplasmin level may be low
Microscope examination of the hair may show breaks at regular intervals
Genetic testing may show mutation in the ATP7A gene