October 07, 2005

Oral-facial-digital syndrome

Seven different oral-facial-digital syndromes have been described. Oral-facial-digital syndrome type 1 (OFD1) is characterized by oral abnormalities (lobed tongue, bumps tongue, cleft palate, and dental abnormalities); facial (abnormalities in eye spacing, cleft lip and small chin); digital (oddly shaped, extra, or stuck together fingers) as well as brain and kidney abnormalities. About half of the individuals with OFD1 have some degree of mental retardation, which is usually mild. Almost all affected individuals are female, as it is inherited in an X-linked dominant pattern and most affected male pregnancies miscarry or are stillborn.

Posted by emily at 09:48 AM