multiple epiphyseal dysplasia type 4
Findings
No curated finding names multiple epiphyseal dysplasia type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.
Definition from the Mondo Disease Ontology (MONDO:0009189), read 2026-09-29. CC BY 4.0.
Features
58 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.
- ArthralgiaHPOHP:0002829
- Very frequent (80% to 99% of cases)
- Multiple epiphyseal dysplasiaHPOHP:0002654
- Very frequent (80% to 99% of cases)
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
- Double-layered patellaHPOHP:0031174
- 7 of 10 reported patients
- Frequent (30% to 79% of cases)
- Accelerated skeletal maturationHPOHP:0005616
- Frequent (30% to 79% of cases)
- Acetabular dysplasiaHPOHP:0008807
- Frequent (30% to 79% of cases)
Show the remaining 46
- Flattened epiphysisHPOHP:0003071
- Frequent (30% to 79% of cases)
- Flattened femoral epiphysisHPOHP:0030289
- Frequent (30% to 79% of cases)
- Flexion contractureHPOHP:0001371
- Frequent (30% to 79% of cases)
- Genu valgumHPOHP:0002857
- Frequent (30% to 79% of cases)
- Joint stiffnessHPOHP:0001387
- Frequent (30% to 79% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Frequent (30% to 79% of cases)
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.
- SLC26A2HGNC:10994
- Definitive · G2P · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: multiple epiphyseal dysplasia type 4
- Also called
- autosomal recessive multiple epiphyseal dysplasiaEDM4epiphyseal dysplasia, multiple, type 4MED4multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2Polyepiphyseal dysplasia type 4Recessive Multiple Epiphyseal DysplasiarMEDSLC26A2 multiple epiphyseal dysplasia (disease)