| Occipital horn syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 304150 |
| DiseasesDB | 33413 |
Occipital horn syndrome was formerly considered a variant of Ehlers-Danlos syndrome. An X-linked recessive disorder, this variant is characterized by a deficiency in biliary copper excretion that causes deformations in the skeleton. These include projections on the back of the skull (parasagittal bone exostoses arising from the occipital bone—the so-called "occipital horns") as well as deformities of the elbow, radial head dislocation, hammer-shaped lateral ends of the clavicles, and abnormalities of the hips and pelvis.
See also
- ATP7A, the responsible gene
- Cutis laxa
External links
- Occipital horn syndrome at NIH's Office of Rare Diseases
 |
This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
This entry is from Wikipedia, the leading user-contributed encyclopedia. It may not have been reviewed by professional editors (see full disclaimer)
