Pediatric cartilage ectoderm hypoplasia syndrome

Cartilage ectodermal dysplasia syndrome, also known as Ellis-van Creveld congenital malformation syndrome, congenital heart disease syndrome of cartilage calcification, cartilage ectodermal dysplasia syndrome, etc., is an autosomal recessive genetic disease. Mutations or environmental influences cause the differentiation of the long bone growth plate to be deviated from normal, resulting in defects in proliferation of the long bone growth plate. The patient had a dwarf appearance at birth, manifested as a short-limbed dwarf, and may have congenital heart disease and genital deformities.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.