Diseases

Orofaciodigital Syndromes

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

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Classification

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MeSH Record

Synonyms

23 entry terms
  • Dysplasia Linguofacialis
  • Oral-Facial-Digital Syndrome
  • Oro-Facio-Digital Syndrome
  • Orodigitofacial Dysostosis
  • Orodigitofacial Syndrome
  • Orofaciodigital Syndrome
  • Syndrome, Orofaciodigital
  • Syndromes, Orofaciodigital
  • Gorlin-Psaume Syndrome
  • Mohr Syndrome
  • Oral-Facial-Digital Syndrome, Type I
  • Oral-Facial-Digital Syndrome, Type II
  • Orofaciodigital Syndrome I
  • Orofaciodigital Syndrome II
  • Papillon-Leage and Psaume Syndrome
  • Gorlin Psaume Syndrome
  • Oral Facial Digital Syndrome, Type I
  • Oral Facial Digital Syndrome, Type II
  • Orofaciodigital Syndrome IIs
  • Orofaciodigital Syndrome Is
  • Papillon Leage and Psaume Syndrome
  • Syndrome, Gorlin-Psaume
  • Syndrome, Mohr

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

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

MeSH Record

History Note

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

MeSH Hierarchy

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AMA Style

References

  1. National Library of Medicine. Orofaciodigital Syndromes. Medical Subject Headings (MeSH). 2026. Unique ID D009958. http://id.nlm.nih.gov/mesh/2026/D009958
  2. Orofaciodigital Syndromes. In: Wikipedia. https://en.wikipedia.org/wiki/Orofaciodigital_syndrome
  3. Orofaciodigital Syndromes. In: Wikidata. https://www.wikidata.org/wiki/Q3508783