spondyloepiphyseal dysplasia with metatarsal shortening
Findings
No curated finding names spondyloepiphyseal dysplasia with metatarsal shortening yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.
Definition from the Mondo Disease Ontology (MONDO:0012206), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 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
- 5 of 5 reported patients
- Irregular vertebral endplatesHPOHP:0003301
- 5 of 5 reported patients
- Limitation of joint mobilityHPOHP:0001376
- 5 of 5 reported patients
- PlatyspondylyHPOHP:0000926
- 5 of 5 reported patients
- Short metatarsalHPOHP:0010743
- 5 of 5 reported patients
- Short toeHPOHP:0001831
- 5 of 5 reported patients
- OsteochondromaHPOHP:0030431
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
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: spondyloepiphyseal dysplasia with metatarsal shortening
- Also called
- Czech dysplasiaCzech dysplasia metatarsal typeCzech dysplasia, metatarsal typepseudorheumatoid dysplasia, progressive, with hypoplastic toesSED with metatarsal shorteningspondyloepiphyseal dysplasia with precocious osteoarthritis