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.