Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare, genetic, primary bone dysplasia syndrome characterized by bilateral, painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism), epilepsy, gingival fibromatosis (possibly obscuring teeth), and intellectual disability. Other associated variable features include hypertrichosis, stunted growth, juvenile rheumatoid arthritis, and development of ocular abnormalities (e.g. pigmentary retinopathy, optic disc pallor, Axenfeld anomaly). Radiological images typically show bilateral multifocal radiolucency involving the body, angle and ramus of the mandible and coronoid process. Disease data Klasyfikacja Malformation syndrome Synonimy Cherubism-gingival fibromatosis-intellectual disability syndrome Cherubizm - zwłóknienie dziąseł - niepełnosprawność intelektualna Kod ORPHA 3019 Kod OMIM 266270 Kod ICD10 Q87.8 Kod ICD11 LD2F.1Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl