Contractures-ectodermal dysplasia-cleft lip/palate syndrome

What is 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.

Other condition names

  • Ladda-Zonana-Ramer syndrome

Inheritance type

Autosomal recessive, X-linked recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
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