Hyperostosis corticalis generalisata

Definition

Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.

Also known as endosteal hyperostosis, hyperostosis corticalis generalisata, hyperphosphatasemia tarda, Van Buchem disease, van Buchem disease type 1 — per MONDO

Also identified as

• DOID 0080036 per MONDO
• NCIT C131812 per MONDO
• OMIM 239100 per MONDO
• Orphanet 3416 per MONDO
• SCTID 59763006 per MONDO
• UMLS C0432272 per MONDO

Affected Organs