Van Buchem syndrome

Also known as: Hyperostosis corticalis generalisata

Sclerosteosis-like generalized hyperostosis with cranial nerve compression.

Medical specialty: Orthopedics
Subspecialty: Orthopedics / Metabolic bone disease
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes
Gene(s) involved: LRP4, SOST

Etiology & mechanism

SOST enhancer deletion reducing sclerostin.

Gene(s) involved (2)

LRP4SOST

Symptoms & signs (4)

facial palsyhearing losshyperostosismandibular enlargement

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.