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spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD)
Genetics:
- associated with defects in CHST3
Clinical manifestations:
- dislocation of the knees &/or hips at birth
- clubfoot
- elbow joint dysplasia with subluxation & limited extension
- short stature
- progressive kyphosis developing in late childhood
- usually evident at birth
- during childhood, the dislocations improve, both spontaneously & with surgical treatment, & features of spondyloepiphyseal dysplasia become apparent, leading to
a) arthritis of the hips & spine with
b) intervertebral disk degeneration
c) rigid kyphoscoliosis
d) trunk shortening by late childhood
General
spondyloepiphyseal dysplasia
Database Correlations
OMIM 143095
References
OMIM :accession 143095