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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)
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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. 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.Occipital horn syndrome (OHS) is characterized by sagging and non-stretchy skin (
Last updated: 2/2/2012
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.