Menkes Disease

Menkes disease (MD) is an inherited X-linked recessive disorder that affects many systems in the body. Affected infants are often born prematurely and may have non-specific symptoms such as hypothermia, hypoglycemia, and prolonged jaundice. One obvious and specific physical sign is “steely” or “kinky” hair that usually develops by several months of age. Menkes disease is also associated with seizures, stunted growth, failure to thrive, unstable body temperature, and intellectual disability.

Reference: Rare Diseases (NORD)