Orofaciodigital (OFD) syndromes: Report of a case with OFDS type I.

Ιn this paper α literature review is performed regarding the orofaciodigital syndrome (OFDS) and a characteristic case of OFDS type I is presented. OFDS comprises a heterogenous group of pathologic conditions, consisting of 11 types with different phenotypes (I-XI). OFDS type I diagnosis is set at birth from the characteristic oral, digital and facial anomalies. It is x-linked, pertains to female subjects, and is attributed to a gene mutation located at Xp22.3-22.2 position. Oral anomalies include lacerated tongue, multiple frenula, tongue harmatomes or lipomas, soft palate and/or hard palate clefts, congenitally missing teeth and other dental anomalies. Facial anomalies include hypertelorism, hypoplasia of the major pterygoid nasal cartilage, pseudo-cleft at the middle portion of the upper lip and micrognathia. Digital anomalies include brachydactyly, syndactyly, clinodactyly of the fifth finger, doubling of the big toe and polydactyly of the hands. Moreover, central nervous system anomalies accompanied with minor mental retardation and polycystic kidney disease may be present. The main treatment focus of patients with OFDS type I is surgery of the clefts, of the frenula, of the lingual anomalies, of the digital anomalies and orthodontic treatment of the malocclusion. Furthermore, special care is required for proper kidney function and rehabilitation of speech disorders.