Oral-facial-digital syndrome

Abstract

The oral-facial-digital (OFD) syndrome is probably more common in the United Kingdom than the published reports would suggest. Five instances of the OFD syndrome are presented. Four of these are members of the same family-a mother and three daughters. The genetics of this syndrome are discussed. We found no chromosomal abnormality in our patients, and believe that further studies are required before accepting a partial trisomy as the cause of the OFD syndrome. On present evidence, an X-linked dominant gene, lethal when hemizygous, appears to be the most likely cause of the condition.