Occipital horn syndrome
Overview
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.
Symptoms
* Soft skin * Mildly hyperextensible skin * Ossified occipital horn * Short humeri * Short broad clavicles
Diagnosis
Diagnosis * increased serum copper and ceruloplasmin * decreased lysyl oxidase activity in cultured cells and samples of skin * excess copper and increased copper accumulation in cultured fibroblasts
Treatment
Supportive * no treatment for underlying disorder * multidisciplinary approach o Paediatrics, Orthopedics o genetic counselling o moniter for complications, i.e., diverticulae, aneurysms, chronic diarrhea, inguinal hernias o parenteral copper administration does not correct the low lysyl oxidase activity