Biallelic mutations in CDH3 can cause recessive congenital hypotrichosis with juvenile macular dystrophy [26], a rare disorder characterized by sparse hair and progressive vision loss, as well as ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome, similar to the former but additionally causing congenital limb malformation [27]. The gene discussed is CDH3; the disease is ectodermal dysplasia syndrome.