Oral–facial–digital syndrome type 1: a review.

ABSTRACT

The oral–facial–digital syndromes result from the pleiotropic effect of a morphogenetic impairment affecting almost invariably the mouth, face and digits. Other organ systems can be involved, defining specific types of OFDS. To date, 13 types have been distinguished based on characteristic clinical manifestations. The oral–facial–digital syndrome type I is discussed in detail with emphasis on clinical features, molecular genetics and diagnosis.