Hyperostosis corticalis generalisata

Orpha code: 3416OMIM code: 144750

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.

Disease data
Classification

Malformation syndrome

Synonyms
Hyperphosphatasemia tarda
Choroba Van Buchema
Hiperfosfatemia późna
Van Buchem disease
ORPHA code
3416
OMIM code
144750
ICD10 code
M85.2
ICD11 code
LD24.1Y

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl