Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease
- Bone spurs
- Brittle, kinky hair
- Feeding difficulties
- Lack of muscle tone, floppiness (
hypotonia) Low body temperature
- Mental deterioration
- Pudgy, rosy cheeks
- Skeletal changes
Signs and tests
There is often a history of Menkes syndrome in a male relative.
- 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.
Serum ceruloplasmin Serum copper level
- Skin cell (fibroblast) culture
X-ray of the skeletonor x-ray of the skull
Genetic testing may show a change (mutation) in the ATP7A gene.