Endosteal Hyperostosis

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive form of craniotubular hyperostosis due to a 52-kb deletion in the SOST gene, encoding sclerostin. Clinical features include normal stature, enlarged jaw and facial bones, hearing loss, and facial palsy due to cranial nerve deficits. The absence of syndactyly distinguishes this condition from sclerosteosis.

**Synonyms:** - van Buchem Disease - van Buchem Disease Type 1