spondyloepiphyseal dysplasia congenita
Findings
No curated finding names spondyloepiphyseal dysplasia congenita yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
Definition from the Mondo Disease Ontology (MONDO:0008471), read 2026-09-29. CC BY 4.0.
Features
48 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.
- ArthralgiaHPOHP:0002829
- 82 of 93 reported patients · Juvenile onset
- Aplasia/hypoplasia involving bones of the extremitiesHPOHP:0045060
- Very frequent (80% to 99% of cases)
- Disproportionate short-trunk short statureHPOHP:0003521
- Very frequent (80% to 99% of cases)
- Dysplasia of the femoral headHPOHP:0010575
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Lumbar hyperlordosisHPOHP:0002938
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- 52 of 93 reported patients
- Very frequent (80% to 99% of cases)
- Abnormally ossified vertebraeHPOHP:0100569
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
- Flat acetabular roofHPOHP:0003180
- Frequent (30% to 79% of cases)
- Flat faceHPOHP:0012368
- Frequent (30% to 79% of cases)
- Genu valgumHPOHP:0002857
- Frequent (30% to 79% of cases)
Show the remaining 36
- Hip painHPOHP:0030838
- Frequent (30% to 79% of cases)
- Increased head circumferenceHPOHP:0040194
- Frequent (30% to 79% of cases)
- KyphosisHPOHP:0002808
- Frequent (30% to 79% of cases)
- OsteoporosisHPOHP:0000939
- Frequent (30% to 79% of cases)
- PlatyspondylyHPOHP:0000926
- Frequent (30% to 79% of cases)
- Short neckHPOHP:0000470
- Frequent (30% to 79% of cases)
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
- Definitive · G2P · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: spondyloepiphyseal dysplasia congenita
- Also called
- SED congenitaSEDCSpondyloepiphyseal Dysplasia, Congenitalspondyloepiphyseal dysplasia, congenital typeSpranger-Wiedemann disease