otospondylomegaepiphyseal dysplasia, autosomal dominant
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.
MONDO:0019354
Stickler syndrome
excluded_subClassOf
MONDO:0008975
otospondylomegaepiphyseal dysplasia
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
COL11A2 Stickler syndrome
exact
OSMED, Heterozygous
exact
OSMED, heterozygous
exact
OSMEDA
exact
Pierre Robin sequence-fetal chondrodysplasia syndrome
exact
Pierre Robin syndrome with fetal chondrodysplasia
exact
Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type
exact
Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly
exact
Pierre Robin syndrome with foetal chondrodysplasia
exact
Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type
exact
Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly
exact
Pierre Robin syndrome-fetal chondrodysplasia syndrome
exact
STICKLER syndrome, type III
exact
STL3
exact
Stickler syndrome caused by mutation in COL11A2
exact
Stickler syndrome nonocular type
related
Stickler syndrome, Nonocular type
related
Stickler syndrome, non-ocular type
exact
Stickler syndrome, type 3
exact
Stickler syndrome, type III, formerly
exact
WZS
exact
Weissenbacher-Zweymuller syndrome
exact
Weissenbacher-Zweymüller syndrome
related
heterozygous OSMED
exact
heterozygous otospondylomegaepiphyseal dysplasia
exact
otospondylomegaepiphyseal dysplasia, autosomal dominant
exact