spondyloepimetaphyseal dysplasia, matrilin-3 type
Findings
No curated finding names spondyloepimetaphyseal dysplasia, matrilin-3 type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0012108), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
26 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-limb short statureHPOHP:0008873
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Bowing of the legsHPOHP:0002979
- 4 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Limb undergrowthHPOHP:0009826
- Very frequent (80% to 99% of cases)
- Lumbar hyperlordosisHPOHP:0002938
- 4 of 5 reported patients
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Waddling gaitHPOHP:0002515
- 4 of 5 reported patients
Show the remaining 14
- Dysplastic iliac wingHPOHP:0008794
- Flat acetabular roofHPOHP:0003180
- Hypoplastic pubic boneHPOHP:0003173
- Irregular epiphysesHPOHP:0010582
- Metaphyseal spursHPOHP:0005054
- Metaphyseal wideningHPOHP:0003016
- Narrow greater sciatic notchHPOHP:0003375
- Ovoid vertebral bodiesHPOHP:0003300
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.
- MATN3HGNC:6909
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: spondyloepimetaphyseal dysplasia, matrilin-3 type
- Also called
- SEMD, MATN3-relatedSEMD, matrilin-3 typespondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type