spondyloepiphyseal dysplasia with congenital joint dislocations
Findings
No curated finding names spondyloepiphyseal dysplasia with congenital joint dislocations yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.
Definition from the Mondo Disease Ontology (MONDO:0007738), 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
35 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.
- Diminished sulfotransferase activity in cultured fibroblastsHPOHP:6000970
- 2 of 2 reported patients
- Dislocated radial headHPOHP:0003083
- 6 of 6 reported patients
- Intervertebral space narrowingHPOHP:0002945
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Knee dislocationHPOHP:0004976
- 6 of 6 reported patients · Congenital onset
- Limited hip extensionHPOHP:0003093
- 9 of 9 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.
- CHST3HGNC:1971
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: spondyloepiphyseal dysplasia with congenital joint dislocations
- Also called
- chondrodysplasia with congenital joint dislocations, CHST3 typechondrodysplasia with multiple dislocationsCHST3-related skeletal dysplasiaHumerospinal dysostosisSDCD, CHST3 typespondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type