spondyloepiphyseal dysplasia with congenital joint dislocations (Q18553493)
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spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints
- CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
- CHST3-Related Skeletal Dysplasia
- Humero-spinal dysostosis with congenital heart disease
- Humerospinal Dysostosis
- Humerospinal dysostosis
- Kozlowski Celermajer Tink syndrome
- Omani Type
- Spondyloepiphyseal Dysplasia
- SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
- Gollop Coates syndrome
- Bifurcation of distal humerus with oligoectro-syndactyly
- Spondyloepiphyseal Dysplasia, Omani Type
- SDCD, CHST3 type
- Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type
- Chondrodysplasia with congenital joint dislocations, CHST3 type
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | spondyloepiphyseal dysplasia with congenital joint dislocations |
spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints |
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