Menkes syndrome
Alternate Names : Steely hair disease, Menkes kinky hair syndrome, Kinky hair disease
Symptoms & Signs
- 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
Diagnosis & 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: Genetic testing may show a change (mutation) in the ATP7A gene.
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