Hyperostosis corticalis generalisata

Orpha code: 3416OMIM code: 144750

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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