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Contractures - ectodermal dysplasia - cleft lip/palate

Orpha number ORPHA1484
Synonym(s) Ladda-Zonana-Ramer syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
  • X-linked recessive
Age of onset Neonatal/infancy
ICD-10
  • Q87.8
OMIM
UMLS
  • C1844935
  • C2931745
MeSH
  • C535465
  • C538135
MedDRA -
SNOMED CT -

Summary

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.


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