Other Names for this Disease
- Menkes syndrome
- Steely hair disease
- Menkea syndrome
- Kinky hair disease
- Copper transport disease
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Occipital horn syndrome is one of the less severe forms of Menkes syndrome that begins in early to middle childhood. Menkes disease is caused by mutations in the ATP7A gene. It is inherited in an X-linked recessive pattern. Early treatment with copper may slightly improve the prognosis in some affected children.Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. Additional signs and symptoms may be present. Children with Menkes syndrome typically begin to develop very severe symptoms during infancy.
Last updated: 12/2/2015
- Menkes syndrome. Genetics Home Reference (GHR). March 2009; http://ghr.nlm.nih.gov/condition/menkes-syndrome. Accessed 12/2/2015.
- Kaler SG. Genetics of Menkes Kinky Hair Disease. Medscape Reference. September 8, 2015; http://emedicine.medscape.com/article/946985-overview.
- Children Living with Inherited Metabolic Diseases (CLIMB) has a Web page with information about Menkes disease and other metabolic disorders. Click on the link above to view the information page.
- Genetics Home Reference (GHR) contains information on Menkes disease. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
Genetics of Menkes Kinky Hair Disease
Menkes Disease (Neurology)
Dermatologic Manifestations of Menkes Kinky Hair Disease
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Menkes disease. Click on the link to view a sample search on this topic.