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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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Overview


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

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.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Occipital horn syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Occipital horn syndrome. Click on the link to view a sample search on this topic.