Disease

spondyloepiphyseal dysplasia with congenital joint dislocations

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.

Synonyms

CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
CHST3-Related Skeletal Dysplasia

Cross References

MIM:143095

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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