Contractures-ectodermal dysplasia-cleft lip/palate syndrome
ORPHA:1484· ICD-10 Q87.8
Definition
A rare ectodermal dysplasia 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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Neonatal