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Concept information

Preferred term

Orofaciodigital Syndromes  

Type

  • mesh:Descriptor

Definition

  • Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.

Entry terms

  • Dysplasia Linguofacialis
  • Oral-Facial-Digital Syndrome
  • Orodigitofacial Dysostosis
  • Orodigitofacial Syndrome
  • Oro-Facio-Digital Syndrome
  • Orofaciodigital Syndrome

In other languages

  • French

  • Dysostoses oro-digito-faciales
  • Syndrome oro-digito-facial
  • Syndrome oro-facio-digital
  • Syndrome orodigitofacial

URI

http://data.loterre.fr/ark:/67375/JVR-RKM32GJJ-B

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