Spondyloepiphyseal dysplasia with congenital joint dislocations is a rare autosomal recessive disorder characterized by joint dislocations commonly in knee, elbow and hip with changes in surface of the joints and spine. Some individuals may also have cardiac involvement and hearing loss. 59 patients with this disorder have been reported worldwide. No intellectual disability has been reported.
Joint problems need to be treated appropriately to improve the quality of life. Evaluation for heart ailments by echocardiography and appropriate management by cardiologists is necessary.
CHST3