Contractures-ectodermal dysplasia-cleft lip/palate syndrome

Orpha code: 1484OMIM code: 301815

Definition

A rare 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.

Disease data
Classification

Malformation syndrome

Synonyms
Ladda-Zonana-Ramer syndrome
Zespół Ladda, Zonana i Ramera
ORPHA code
1484
OMIM code
301815
ICD10 code
Q87.8
ICD11 code
LD27.0Y

No additional description.

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