multiple epiphyseal dysplasia type 5
Findings
No curated finding names multiple epiphyseal dysplasia type 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.
Definition from the Mondo Disease Ontology (MONDO:0011765), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
28 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.
- Hip painHPOHP:0030838
- 1 of 1 reported patient
- Short femoral neckHPOHP:0100864
- 1 of 1 reported patient
- Short metacarpalHPOHP:0010049
- 1 of 1 reported patient
- Delayed proximal femoral epiphyseal ossificationHPOHP:0008828
- Very frequent (80% to 99% of cases)
- Hip dysplasiaHPOHP:0001385
- Very frequent (80% to 99% of cases)
- Abnormal hip joint morphologyHPO
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.
- MATN3HGNC:6909
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
8 names
Resolves to: multiple epiphyseal dysplasia type 5
- Also called
- BHMEDbilateral hereditary micro-epiphyseal dysplasiaEDM5epiphyseal dysplasia, multiple, type 5MATN3 multiple epiphyseal dysplasia (disease)MED5multiple epiphyseal dysplasia (disease) caused by mutation in MATN3Polyepiphyseal dysplasia type 5