otospondylomegaepiphyseal dysplasia
Findings
No curated finding names otospondylomegaepiphyseal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.
Definition from the Mondo Disease Ontology (MONDO:0008975), read 2026-09-29. CC BY 4.0.
Features
39 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.
- Abnormal joint morphologyHPOHP:0001367
- Very frequent (80% to 99% of cases)
- Abnormal pelvis bone morphologyHPOHP:0040163
- Very frequent (80% to 99% of cases)
- Abnormal vertebral morphologyHPOHP:0003468
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Disproportionate short statureHPOHP:0003498
- Very frequent (80% to 99% of cases)
- Midface retrusionHPOHP:0011800
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Abnormal iliac wing morphologyHPOHP:0011867
- Frequent (30% to 79% of cases)
- Abnormal long bone morphologyHPOHP:0011314
- Frequent (30% to 79% of cases)
- Bifid uvulaHPOHP:0000193
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
Reported absent (4)
- CataractHPOHP:0000518
- Degenerative vitreoretinopathyHPOHP:0007964
- High myopiaHPOHP:0011003
- Retinal detachmentHPOHP:0000541
Show the remaining 27
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- Dumbbell-shaped femurHPOHP:0006375
- Frequent (30% to 79% of cases)
- Epiphyseal dysplasiaHPOHP:0002656
- Frequent (30% to 79% of cases)
- Flat faceHPOHP:0012368
- Frequent (30% to 79% of cases)
- Limb undergrowthHPOHP:0009826
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
Genes
2 genes
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.
Where it sits
- A kind of
Other names
2 names
Resolves to: otospondylomegaepiphyseal dysplasia
- Also called
- OSMEDotospondylmegaepiphyseal dysplasia