Tags: Disease.
Occipital horn syndrome (OHS) formerly considered a variant of Ehlers-Danlos syndrome is an X-linked recessive connective tissue disorder. It is caused by a deficiency in the transport of the essential mineral copper associated with mutations in the ATP7A gene. Only about 2/3 of children with OHS are thought to have genetically inherited the disorder; the other 1/3 do not have the disease in their family history. Since the disorder is X-linked recessive the disease affects more males.