A range of disorders due to cartilage defects, usually causing short stature and a variable range of malformations. Spondyloepiphyseal dysplasia congenita is caused by mutation in the gene for collagen IIA2 (cartilage type). The Strudwick type is caused by a dominant mutation in collagen IIA1. The Omani type is caused by mutation in the chondroitin 6-sulphotransferase 3 gene. A mild autosomal dominant form, Kimberley type, is caused by a mutation in aggrecan. Spondyloepiphyseal dysplasia tarda is caused by mutation in sedlin. See also pseudoachondroplasia.
Subjects: Medicine and Health.