Symptoms:

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

Signs and tests:

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

Some of the tests that may be done include:

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

Genetic testing may show mutation in the ATP7A gene