an inherited bone disorder characterized by an overgrowth of the mandible and brow areas. The excessive bone growth can lead to entrapment of cranial nerves, causing facial palsy and loss of hearing. Also called van Buchem's syndrome.
van Buchem diseaseAn autosomal recessive condition (OMIM:239100) characterised by hyperostosis of the skull, mandible, clavicles, ribs and diaphyseal cortices of long bones, as well as a massively enlarged jaw and thickened skull, leading to facial nerve palsy, hearing loss and optic atrophy.
van Buchem disease is caused by a genomic deletion of a long-range bone enhancer on chromosome 17q12-q21, which misregulates sclerostin.