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Contractures-ectodermal dysplasia-cleft lip/palate syndrome

Disease definition

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.

ORPHA:1484

  • Synonym(s):
    • Ladda-Zonana-Ramer syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or X-linked recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 301815
  • UMLS: C1844935  C2931745
  • MeSH: C535465  C538135
  • GARD: 1515
  • MedDRA: -

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