NIH

Zebra of the Week: Menkes disease

November 10, 2025

Menkes disease (MD) is an inherited condition that impacts the way the body processes copper. MD primarily affects the nervous system and connective tissue with symptoms that tend to get worse over time. Symptoms of MD usually appear within the first few months of life and include sparse, kinky hair; slow growth (failure to thrive); and seizures. Additional features may include hypotonia, sagging facial features, and developmental and intellectual disability. Occipital horn syndrome is a less severe form of MD that begins in early to middle childhood. MD is caused by alterations in the ATP7A gene and is inherited in an X-linked recessive pattern, and thus primarily affects boys.

Source:

(Accessed 2025, November 7). NIH: Genetic and Rare Diseases Information Center. Menkes Disease. https://rarediseases.info.nih.gov/diseases/1521/menkes-disease