Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Occipital horn syndrome


Other Names for this Disease
  • Cutis laxa X-linked
  • EDS IX (formerly)
  • Ehlers-Danlos syndrome, occipital horn type (formerly)
  • OHS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview



What is occipital horn syndrome?

Is genetic testing available for occipital horn syndrome?


What is occipital horn syndrome?

Occipital horn syndrome (OHS) is characterized by sagging and non-stretchy skin (cutis laxa), wedge-shaped calcium deposits in a bone at the base of the skull (occipital bone), coarse hair, and loose joints.  Individuals with OHS are said to have normal or slightly reduced intelligence.[1] This condition is considered to be a mild type of Menkes diseases, which affects copper levels in the body.  Occipital horn syndrome may be caused by mutations in the ATP7A gene, and it is inherited in an x-linked recessive pattern.[2]
Last updated: 2/2/2012

Is genetic testing available for occipital horn syndrome?

GeneTests lists laboratories offering clinical genetic testing for occipital horn syndrome.  Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
Last updated: 2/2/2012

References
  1. US National Library of Medicine. Cutis laxa. Genetics Home Reference. June 2009; http://ghr.nlm.nih.gov/condition/cutis-laxa. Accessed 1/31/2012.
  2. Kaler S.. ATP7A-Related Copper Transport Disorders. GeneReviews. October 14, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1413/#top. Accessed 1/31/2012.