Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. Disease data Klasyfikacja Malformation syndrome Synonimy Stickler syndrome, nonocular type AD OSMED Stickler syndrome type 3 Stickler syndrome, non-ocular type Kod ORPHA 166100 Kod OMIM 184840 Kod ICD10 Q87.0 Kod ICD11 - *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