spondyloepiphyseal dysplasia, Stanescu type
MONDO:0014701Mondo
Findings
No curated finding names spondyloepiphyseal dysplasia, Stanescu type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
12 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
- 3 of 3 reported patients
- PlatyspondylyHPOHP:0000926
- 3 of 3 reported patients
- Waddling gaitHPOHP:0002515
- 3 of 3 reported patients
- Coxa valgaHPOHP:0002673
- 2 of 3 reported patients
- KyphoscoliosisHPOHP:0002751
- 2 of 3 reported patients
- Short statureHPOHP:0004322
- 2 of 3 reported patients
- Stiff neckHPOHP:0025258
- 2 of 3 reported patients
- Vertebral wedgingHPOHP:0008422
- 2 of 3 reported patients
- Hypoplastic iliaHPOHP:0000946
- 1 of 3 reported patients
- Internal tibial torsionHPOHP:0034372
- 1 of 3 reported patients
- Joint stiffnessHPOHP:0001387
- Spondyloepiphyseal dysplasiaHPOHP:0002655
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
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: spondyloepiphyseal dysplasia, Stanescu type
- Also called
- SED, Stanescu typeSEDSTN