spondyloepimetaphyseal dysplasia, Strudwick type
Findings
No curated finding names spondyloepimetaphyseal dysplasia, Strudwick 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 short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
Definition from the Mondo Disease Ontology (MONDO:0008476), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
34 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
- 2 of 2 reported patients
- Pectus carinatumHPO · MondoHP:0000768
- 2 of 2 reported patients
- Aplasia/hypoplasia involving bones of the extremitiesHPOHP:0045060
- Very frequent (80% to 99% of cases)
- Flared metaphysisHPOHP:0003015
- Very frequent (80% to 99% of cases)
- Abnormal vertebral morphologyHPOHP:0003468
- Frequent (30% to 79% of cases)
- Abnormally ossified vertebraeHPOHP:0100569
- Frequent (30% to 79% of cases)
Show the remaining 22
- Hypoplastic pubic boneHPOHP:0003173
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- MyopiaHPOHP:0000545
- Frequent (30% to 79% of cases)
- Short long boneHPOHP:0003026
- Frequent (30% to 79% of cases)
- Small epiphysesHPOHP:0010585
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- 1 of 2 reported patients
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.
- COL2A1HGNC:2200
- Definitive · G2P · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021