Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Menkes syndrome

Reviewed March 2009

What is Menkes syndrome?

Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals. In rare cases, symptoms begin later in childhood.

Occipital horn syndrome (sometimes called X-linked cutis laxa) is a less severe form of Menkes syndrome that begins in early to middle childhood. It is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints.

How common is Menkes syndrome?

The incidence of Menkes syndrome and occipital horn syndrome is estimated to be 1 in 100,000 newborns.

What genes are related to Menkes syndrome?

Mutations in the ATP7A gene cause Menkes syndrome. The ATP7A gene provides instructions for making a protein that is important for regulating copper levels in the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. Mutations in the ATP7A gene result in poor distribution of copper to the body's cells. Copper accumulates in some tissues, such as the small intestine and kidneys, while the brain and other tissues have unusually low levels of copper. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels, and the nervous system. The signs and symptoms of Menkes syndrome and occipital horn syndrome are caused by the reduced activity of these copper-containing enzymes.

Related Gene(s)

Changes in this gene are associated with Menkes syndrome.

  • ATP7A

How do people inherit Menkes syndrome?

Menkes syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

In about one-third of cases, Menkes syndrome is caused by new mutations in the ATP7A gene. People with a new mutation do not have a history of the disorder in their family.

Where can I find information about diagnosis or management of Menkes syndrome?

These resources address the diagnosis or management of Menkes syndrome and may include treatment providers.

  • Gene Review: ATP7A-Related Copper Transport Disorders (http://www.ncbi.nlm.nih.gov/books/NBK1413)
  • Genetic Testing Registry: Menkes kinky-hair syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0022716)
  • MedlinePlus Encyclopedia: Copper in diet (http://www.nlm.nih.gov/medlineplus/ency/article/002419.htm)
  • MedlinePlus Encyclopedia: Menkes syndrome (http://www.nlm.nih.gov/medlineplus/ency/article/001160.htm)

You might also find information on the diagnosis or management of Menkes syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/menkes-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/menkes-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Menkes syndrome?

You may find the following resources about Menkes syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Menkes syndrome?

  • Copper transport disease
  • Hypocupremia, Congenital
  • Kinky Hair Syndrome
  • Menkea syndrome
  • Menkes Disease
  • MK
  • MNK
  • Steely Hair Syndrome
  • X-linked copper deficiency

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Menkes syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Menkes syndrome?

calcium ; cell ; chromosome ; congenital ; deficiency ; developmental delay ; disability ; failure to thrive ; gene ; hypotonia ; incidence ; inheritance ; inherited ; intestine ; muscle tone ; mutation ; nervous system ; new mutation ; prognosis ; protein ; recessive ; sex chromosomes ; syndrome ; toxic ; X-linked recessive

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S. The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum. J Biol Chem. 2005 Mar 11;280(10):9640-5. Epub 2005 Jan 5. (http://www.ncbi.nlm.nih.gov/pubmed/15634671?dopt=Abstract)
  • Bertini I, Rosato A. Menkes disease. Cell Mol Life Sci. 2008 Jan;65(1):89-91. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17989919?dopt=Abstract)
  • de Bie P, Muller P, Wijmenga C, Klomp LW. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J Med Genet. 2007 Nov;44(11):673-88. Epub 2007 Aug 23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17717039?dopt=Abstract)
  • Donsante A, Tang J, Godwin SC, Holmes CS, Goldstein DS, Bassuk A, Kaler SG. Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. J Med Genet. 2007 Aug;44(8):492-7. Epub 2007 May 11. Erratum in: J Med Genet. 2008 Jan;45(1):64. (http://www.ncbi.nlm.nih.gov/pubmed/17496194?dopt=Abstract)
  • Gene Review: ATP7A-Related Copper Transport Disorders (http://www.ncbi.nlm.nih.gov/books/NBK1413)
  • Harris ED. Basic and clinical aspects of copper. Crit Rev Clin Lab Sci. 2003 Oct;40(5):547-86. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14653357?dopt=Abstract)
  • Kaler SG, Holmes CS, Goldstein DS, Tang J, Godwin SC, Donsante A, Liew CJ, Sato S, Patronas N. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med. 2008 Feb 7;358(6):605-14. doi: 10.1056/NEJMoa070613. (http://www.ncbi.nlm.nih.gov/pubmed/18256395?dopt=Abstract)
  • Madsen E, Gitlin JD. Copper deficiency. Curr Opin Gastroenterol. 2007 Mar;23(2):187-92. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17268249?dopt=Abstract)
  • Menkes JH. Menkes disease and Wilson disease: two sides of the same copper coin. Part I: Menkes disease. Eur J Paediatr Neurol. 1999;3(4):147-58. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10476363?dopt=Abstract)
  • National Institute of Neurological Disorders and Stroke (http://www.ninds.nih.gov/disorders/menkes/menkes.htm)
  • Prohaska JR. Role of copper transporters in copper homeostasis. Am J Clin Nutr. 2008 Sep;88(3):826S-9S. (http://www.ncbi.nlm.nih.gov/pubmed/18779302?dopt=Abstract)
  • Tang J, Robertson S, Lem KE, Godwin SC, Kaler SG. Functional copper transport explains neurologic sparing in occipital horn syndrome. Genet Med. 2006 Nov;8(11):711-8. (http://www.ncbi.nlm.nih.gov/pubmed/17108763?dopt=Abstract)
  • Voskoboinik I, Camakaris J. Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease. J Bioenerg Biomembr. 2002 Oct;34(5):363-71. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12539963?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2009
Published: October 20, 2014