The spectrum of the oro-facial digital syndrome

Abstract

The Oro-facial Digital Syndromes are well recognised, but confusion exists over their characteristics and nomenclature, especially as two new types have recently been described. Since there is no single feature that distinguishes one type from another, the authors recommend that classification be restricted to those sub-divisions with a known inheritance pattern, i.e., Types I and II. This enables accurate genetic counselling to be offered whilst accepting the variable clinical presentation. The literature is reviewed and seven new cases are presented.