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[long dash]a mother and 3 daughters. The genetics of this syndrome is discussed. No chromosomal abnormality was found in the patients, and 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.