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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Sex Chromosome Disorders > Orofaciodigital Syndromes
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Sex Chromosome Disorders > Orofaciodigital Syndromes
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Orofaciodigital Syndromes
Musculoskeletal Diseases > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Orofaciodigital Syndromes
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Orofaciodigital Syndromes
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Dysostoses > Orofaciodigital Syndromes

Preferred term

Orofaciodigital Syndromes  

Type

  • Topical Descriptor

Broader concept

Entry terms

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

Note

  • do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

Scope note

  • 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.

History note

  • 79; was OROFACIODIGITAL SYNDROME see under ABNORMALITIES, MULTIPLE 1975-78; was OROFACIODIGITAL SYNDROME 1964-74 (Prov)

In other languages

  • orodigitofasiaaliset oireyhtymät

    Finnish

  • orodigitofasiaalinen dysostoosi
  • orodigitofasiaalinen oireyhtymä
  • orodigitofasiaalinen syndrooma
  • orodigitofasiaalinen syndroomat
  • orodigitofasiaaliset dysostoosit
  • orofasiodigitaalinen oireyhtymä
  • orofasiodigitaalinen syndrooma
  • orofasiodigitaaliset oireyhtymät
  • orofasiodigitaaliset syndroomat
  • Orofaciodigitala syndrom

    Swedish

URI

http://www.yso.fi/onto/mesh/D009958

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