spondyloepiphyseal dysplasia with congenital joint dislocations

Term ID

DOID:0050813

Synonyms

• CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
• CHST3-Related Skeletal Dysplasia
• humero-spinal dysostosis
• Humero-spinal dysostosis with congenital heart disease
• humerospinal dysostosis
• Kozlowski Celermajer Tink syndrome
• Omani Type
• Spondyloepiphyseal Dysplasia

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. http://www.uniprot.org/diseases/DI-01753

References

• OMIM:143095

Ontology

Human Disease   ( DOID:0050813 )