contractures-ectodermal dysplasia-cleft lip/palate syndrome
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0019287
ectodermal dysplasia syndrome
is_a
Ladda Zonana Ramer syndrome
related
Ladda-Zonana-Ramer syndrome
exact
congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment
related
contractures ectodermal dysplasia cleft lip palate
related