Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII)

Am J Med Genet. 1992 Apr 1;42(6):789-92. doi: 10.1002/ajmg.1320420608.


The most recent classification of the oral-facial-digital syndromes (OFDS) includes 7 types distinguishable by different clinical signs. We describe 2 brothers presenting oral, facial, and digital anomalies and an additional manifestation consisting of specific retinal abnormalities, i.e., retinochoroideal lacunae of colobomatous origin. Our patients may be affected with a new type of OFDS, i.e., OFDS type VIII, characterized by eye abnormalities in addition to other manifestations that partially overlap with those of OFDS type II. Given that there are 2 affected brothers, we cannot distinguish between autosomal and X-linked recessive inheritance.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Face / abnormalities*
  • Fingers / abnormalities*
  • Humans
  • Intellectual Disability
  • Male
  • Retina / abnormalities*
  • Syndrome
  • Toes / abnormalities*