Also Known As
COL11A2 Stickler syndromeOSMED, HeterozygousOSMED, heterozygousOSMEDAPiere-Robin syndromePierre Robin malformationPierre Robin sequence-fetal chondrodysplasia syndromePierre Robin syndrome with fetal chondrodysplasiaPierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular typePierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerlyPierre Robin syndrome with foetal chondrodysplasiaPierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular typePierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerlyPierre Robin syndrome-fetal chondrodysplasia syndromeSTICKLER syndrome, type IIISTL3Stickler syndrome caused by mutation in COL11A2Stickler syndrome, non-ocular typeStickler syndrome, type 3Stickler syndrome, type III, formerlyWZSWeissenbacher-Zweymuller syndromeheterozygous OSMEDheterozygous otospondylomegaepiphyseal dysplasiaotospondylomegaepiphyseal dysplasia, autosomal dominantStickler syndrome nonocular typeStickler syndrome, Nonocular typeWeissenbacher- Zweymuller syndromeWeissenbacher-Zweymüller syndrome
Definition
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.