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Oral-facial-digital syndrome in Infant/Neonate
Other Resources UpToDate PubMed

Oral-facial-digital syndrome in Infant/Neonate

Contributors: Chris G. Adigun MD, David Dasher MD, Jeffrey D. Bernhard MD, Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH
Other Resources UpToDate PubMed


The oral-facial-digital syndromes (OFDS) are a group of disorders that share common oral, facial, and digital manifestations. The first of the syndromes was described in 1941, and since that time, numerous other cases have been reported. The syndromes are now classified according to 13 different types of OFDS, with differences based upon inheritance patterns or characteristic systemic manifestations. Most of the individual types of OFDS are associated with some degree of central nervous system (CNS) abnormality.

Cutaneous findings vary depending on the specific type of OFDS and include vanishing milia of the face and ears by age 3 years and alopecia and/or brittle hair.

The oral findings include highly arched palate, lobate tongue, lingual hamartomas, and accessory oral frenula, among others. Examples of facial findings include telecanthus, hypertelorism, and cleft lip. Digital findings are broad, and include syndactyly, brachydactyly, and polydactyly of the hands and feet.

The different types are classified as follows:
  • OFDS I: Papillon-Léage-Psaume syndrome
  • OFDS II: Mohr syndrome
  • OFDS III: Sugarman syndrome
  • OFDS IV: Baraitser-Burn syndrome
  • OFDS V: Thurston syndrome
  • OFDS VI: Varadi-Papp syndrome
  • OFDS VII: Whelan syndrome
  • OFDS VIII: Edwards syndrome
  • OFDS IX: Gurrieri syndrome
  • OFDS X: Figuera syndrome
  • OFDS XI: Gabrielli syndrome
  • OFDS XII: Moran-Barroso syndrome
  • OFDS XIII: Degner syndrome
The incidence of OFDS I and II is much greater than the other types of OFDS based on reported cases.


Q87.0 – Congenital malformation syndromes predominantly affecting facial appearance

52868006 – Oral-facial-digital syndrome

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Differential Diagnosis & Pitfalls

  • Pallister-Hall syndrome
  • Hydrolethalus syndrome
  • Ellis-van Creveld syndrome
  • C syndrome
  • Acrocallosal syndrome
  • Majewski syndrome and other short rib-polydactyly syndromes
  • Acro-fronto-facio-nasal syndrome
  • Craniofrontonasal dysplasia
  • Holoprosencephaly-polydactyly syndrome
  • Grix syndrome
  • Smith-Lemli-Opitz syndrome
  • Beemer-Langer syndrome
  • Egger-Joubat syndrome

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Last Updated:12/18/2022
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Oral-facial-digital syndrome in Infant/Neonate
A medical illustration showing key findings of Oral-facial-digital syndrome : Erythema, High arched palate, Hypertelorism, Oral nodule, Teeth abnormalities
Clinical image of Oral-facial-digital syndrome - imageId=2376257. Click to open in gallery.  caption: 'Syndactyly and brachydactyly.'
Syndactyly and brachydactyly.
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