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spondyloepiphyseal dysplasia with congenital joint dislocations
Summary
- Synonym
-
- CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
- CHST3-Related Skeletal Dysplasia
- Humero-spinal dysostosis with congenital heart disease
- Kozlowski Celermajer Tink syndrome
- Omani Type
- Spondyloepiphyseal Dysplasia
- humero-spinal dysostosis
- humerospinal dysostosis
- Definition
- A spondyloepiphyseal 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.
- Super Class
- physical disorder spondyloepiphyseal dysplasia
External Links
- Disease Ontology
- DOID:0050813
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q7LGC8 | Carbohydrate sulfotransferase 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0009811 | Abnormality of the elbow |
| HP:0010049 | Short metacarpal |
| HP:0010582 | Irregular epiphyses |
| HP:0010585 | Small epiphyses |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000218 | High palate |
| HP:0000365 | Hearing impairment |
| HP:0000470 | Short neck |
| HP:0000687 | Widely spaced teeth |
