Contractures-ectodermal dysplasia-cleft lip/palate syndrome
Contractures-ectodermal dysplasia-cleft lip/palate syndrome
Definition
Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.
Also known as Ladda-Zonana-Ramer syndrome — per MONDO