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metaphyseal chondrodysplasia, Spahr type (MDST) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

metaphyseal chondrodysplasia, Spahr type

MONDO:0009597

Also known as:MDSTSpahr type metaphyseal chondrodysplasiametaphyseal chondrodysplasia Spahr type

Overview

GeneticsAutosomal recessive · MMP13 (chr 11)

ResearchLimited published research (1 article)

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 always present findings: Metaphyseal dysplasia and Bowing of the legs; and common findings: Short stature, Knee pain, and Osteochondritis dissecans. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	2	Disproportionate short stature, Short stature

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).

Metaphyseal chondrodysplasia, Spahr 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.

Prognosis

Phenotype severity distribution: 2 always present features, 3 common features.

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 metaphyseal chondrodysplasia, Spahr type.

1 publication has been identified in PubMed for metaphyseal chondrodysplasia, Spahr type. Research spans Case Report / Case Series (100%).

Recent Publications

Kolkiran A (2025). [PMID: 40514045](https://pubmed.ncbi.nlm.nih.gov/40514045/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:250400

Orphanet

European rare disease database

Orphanet:2501

GARD

Genetic and Rare Diseases Info Center

GARD:3563

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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metaphyseal chondrodysplasia, Spahr 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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