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spondyloepimetaphyseal dysplasia, matrilin-3 type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondyloepimetaphyseal dysplasia, matrilin-3 type

MONDO:0012108

Also known as:SEMD, MATN3-relatedSEMD, matrilin-3 typespondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type

Overview

A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.

GeneticsAutosomal recessive · MATN3 (chr 2)

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: Disproportionate short-limb short stature; and very common findings: Excessive inward curve of the lower back (lumbar hyperlordosis), Bowing of the legs, and Waddling gait. 24 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	6	Femoral bowing, Squared iliac bones, Hypoplastic pubic bone

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.

MATN3 encodes matrilin 3 (486 aa). Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks Highest expression in Nerve Tibial (19.7 TPM) and Lung (12.4 TPM).

Spondyloepimetaphyseal dysplasia, matrilin-3 type is associated with mutations in the MATN3 gene on chromosome 2.

MATN3 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for MATN3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 very common features, 1 common feature.

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

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:19 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608728

Orphanet

European rare disease database

Orphanet:156728

GARD

Genetic and Rare Diseases Info Center

GARD:10611

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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spondyloepimetaphyseal dysplasia, matrilin-3 type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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