[MIM 269 500, 614 305]

Very rare. Described in Afrikaner families in South Africa. Autosomal recessive transmission of a deletion of the SOST gene (on 17q21.31) that results in the absence of production of sclerostine, an inhibitor of osteosynthesis. In case of residual activity of sclerostine, a similar phenotype, Van Buchem syndrome, is observed.

Starting during the first 10 years of life:

-        symmetrical bone widening, mainly at the level of the jaws but also at the level of the skull, ribs, diaphysis of long bones and the bones of the hands and feet

-        deformation of hands, including syndactyly

-        high stature

-        progressive loss of hearing and sight, facial paralysis as well as neuropathic pain following the progressive compression of the cranial nerves in their intraosseous pathway

Anesthetic implications:

very hard bone, visual and hearing disorders

References : 

Updated: September 2018