spondyloepiphyseal dysplasia with congenital joint dislocations
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.
Exact Synonyms
CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
CHST3-Related Skeletal Dysplasia
Humero-spinal dysostosis with congenital heart disease
humero-spinal dysostosis
humerospinal dysostosis
Kozlowski Celermajer Tink syndrome
Omani Type
Spondyloepiphyseal Dysplasia
class Information
created_by
lschriml
creation_date
2013-12-04T01:30:01Z
has_dbxref
has_obo_namespace
disease_ontology