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Genetic and Rare Diseases Information Center (GARD)

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Occipital horn syndrome

Other Names for this Disease
  • Cutis laxa X-linked
  • EDS IX (formerly)
  • Ehlers-Danlos syndrome, occipital horn type (formerly)
  • OHS
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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

  1. US National Library of Medicine. Cutis laxa. Genetics Home Reference. June 2009; Accessed 1/31/2012.
  2. Kaler S.. ATP7A-Related Copper Transport Disorders. GeneReviews. October 14, 2010; Accessed 1/31/2012.