spondyloepimetaphyseal dysplasia, Missouri type
Findings
No curated finding names spondyloepimetaphyseal dysplasia, Missouri type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.
Definition from the Mondo Disease Ontology (MONDO:0011198), read 2026-09-29. CC BY 4.0.
Features
13 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.
- Disproportionate short statureHPOHP:0003498
- Frequent (30% to 79% of cases)
- Femoral bowingHPOHP:0002980
- Frequent (30% to 79% of cases)
- Flared metaphysisHPOHP:0003015
- Frequent (30% to 79% of cases)
- Flattened epiphysisHPOHP:0003071
- Frequent (30% to 79% of cases)
- Genu varumHPO · MondoHP:0002970
- Frequent (30% to 79% of cases)
- Knee osteoarthritisHPOHP:0005086
- Frequent (30% to 79% of cases)
- Metaphyseal irregularityHPOHP:0003025
- Frequent (30% to 79% of cases)
- Pear-shaped vertebraeHPO · MondoHP:0004566
- Frequent (30% to 79% of cases)
- Short lower limbsHPOHP:0006385
- Frequent (30% to 79% of cases)
- Small epiphysesHPOHP:0010585
- Frequent (30% to 79% of cases)
- Thick growth platesHPOHP:0025369
- Frequent (30% to 79% of cases)
- Tibial bowingHPOHP:0002982
- Frequent (30% to 79% of cases)
Show the remaining 1
- Spondyloepimetaphyseal dysplasiaMondoHP:0002651
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.
- MMP13HGNC:7159
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: spondyloepimetaphyseal dysplasia, Missouri type
- Also called
- SEMD type 2SEMD, Missouri typespondyloepimetaphyseal dysplasia type 2