Occipital horn syndrome

Occipital horn syndrome
OMIM	304150
DiseasesDB	33413

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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.

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