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spondyloepimetaphyseal dysplasia, Missouri type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondyloepimetaphyseal dysplasia, Missouri type

MONDO:0011198

Also known as:SEMD type 2SEMD, Missouri typespondyloepimetaphyseal dysplasia type 2

Overview

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.

GeneticsAutosomal dominant · MMP13 (chr 11)

ResearchLimited published research (9 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Tibial bowing, Flared metaphysis, Flared, irregular rib ends, and Pear-shaped vertebrae and 17 more.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Pear-shaped vertebrae, Femoral bowing, Delayed skeletal maturation

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MMP13 encodes matrix metallopeptidase 13 (471 aa). Plays a role in the degradation of extracellular matrix proteins including fibrillar collagen, fibronectin, TNC and ACAN. Highest expression in Pituitary (0.6 TPM) and Testis (0.1 TPM).

Spondyloepimetaphyseal dysplasia, Missouri type is associated with mutations in the MMP13 gene on chromosome 11.

MMP13 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 2.6.

Diagnosis

Genetic testing for MMP13 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spondyloepimetaphyseal dysplasia, Missouri type has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for spondyloepimetaphyseal dysplasia, Missouri type.

12 publications have been identified in PubMed for spondyloepimetaphyseal dysplasia, Missouri type. Kisho has analyzed 9 by research type. Research spans Case Report / Case Series (56%), Basic Science / Preclinical (33%), and Diagnostic / Biomarker (11%).

Recent Publications

Thunström S (2026). [PMID: 42069302](https://pubmed.ncbi.nlm.nih.gov/42069302/). *Eur J Med Genet*. [Case Report / Case Series]
Šemić A (2026). [PMID: 41959455](https://pubmed.ncbi.nlm.nih.gov/41959455/). *bioRxiv*. [Basic Science / Preclinical]
Bilgeç N (2025). [PMID: 39807608](https://pubmed.ncbi.nlm.nih.gov/39807608/). *Clin Dysmorphol*. [Case Report / Case Series]
Yeter B (2025). [PMID: 39849673](https://pubmed.ncbi.nlm.nih.gov/39849673/). *J Clin Res Pediatr Endocrinol*. [Diagnostic / Biomarker]
Zamanian Najafabadi S (2025). [PMID: 40751525](https://pubmed.ncbi.nlm.nih.gov/40751525/). *Arch Iran Med*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:47 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602111

Orphanet

European rare disease database

Orphanet:93356

GARD

Genetic and Rare Diseases Info Center

GARD:10618

Questions for Your Care Team

→Should I pursue genetic testing for MMP13, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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spondyloepimetaphyseal dysplasia, Missouri type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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