otospondylomegaepiphyseal dysplasia, autosomal dominant
Findings
No curated finding names otospondylomegaepiphyseal dysplasia, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008490), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anteverted naresHPOHP:0000463
- 27 of 28 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 27 of 28 reported patients
- Malar flatteningHPOHP:0000272
- 27 of 28 reported patients
- Very frequent (80% to 99% of cases)
- ArthralgiaHPOHP:0002829
- Very frequent (80% to 99% of cases)
- Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
Show the remaining 4
- Pectus carinatumHPOHP:0000768
- Occasional (5% to 29% of cases)
- Pectus excavatumHPOHP:0000767
- Occasional (5% to 29% of cases)
- Abnormality of the eyeHPOHP:0000478
- 0 of 3 reported patients
- Premature osteoarthritisHPOHP:0003088
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COL11A2HGNC:2187
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
21 names
Resolves to: otospondylomegaepiphyseal dysplasia, autosomal dominant
- Also called
- COL11A2 Stickler syndromeheterozygous OSMEDheterozygous otospondylomegaepiphyseal dysplasiaOSMED, HeterozygousOSMEDAPierre 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 syndrome