multiple epiphyseal dysplasia, Beighton type
Findings
No curated finding names multiple epiphyseal dysplasia, Beighton type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.
Definition from the Mondo Disease Ontology (MONDO:0007562), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
10 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.
- Asteroid hyalosisHPOHP:0030672
- CataractHPOHP:0000518
- Conductive hearing impairmentHPOHP:0000405
- Epiphyseal dysplasiaHPOHP:0002656
- Flat faceHPOHP:0012368
- MyopiaHPOHP:0000545
- Narrow mouthHPOHP:0000160
- Round faceHPOHP:0000311
- Short phalanx of fingerHPOHP:0009803
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.
- COL2A1HGNC:2200
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
1 name
Resolves to: multiple epiphyseal dysplasia, Beighton type
- Also called
- epiphyseal dysplasia, multiple, with myopia and deafness