van Buchem disease

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van Buchem disease

An 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.

Molecular pathology
van Buchem disease is caused by a genomic deletion of a long-range bone enhancer on chromosome 17q12-q21, which misregulates sclerostin.
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References in periodicals archive ?
Keller et al., "Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease," Genome Research, vol.
Similar features can also present in Van Buchem disease, which was first described in 1955 as an autosomal recessive bone dysplasia linked to a genetic locus on chromosome 17q12-21.
Patients with Van Buchem disease, an osteosclerotic genetic disease, have elevated bone formation markers, higher bone density, and greater derived polar moment of inertia than normal.