Isolated Malformations and Syndromes Associated with Facial Cleft Deformities

Objective: The objective of this survey was to determine the prevalence and distribution of isolated malformations and syndromes which are associated with facial cleft deformities. Methods: Since the establishment of the Facial Cleft Deformity Clinic at the School of Dentistry, University of Pretoria, 2815 patients were treated for the correction of facial cleft deformities. Apart from the general demographic information the following data are also recorded during contact with the patient; pregnancy history of the mother, exposure by the mother to possible etiologic agents, genetic history, associated malformations and syndromes, clinical appearance and classification. The data was captured and analysed using Microsoft Excel and Access computer programmes. Results: The results show that associated malformations and syndromes occurred in 580 or 20.6% of the cases. Of these, 232 (8.2%) were isolated congenital malformations and 348 or 12.4% presented as part of a syndrome or chromosome abnormality. Clubfeet (15), ventricular septal defects (11) and hypertelorism (9) were the most common isolated malformations. Pierre Robin Syndrome (153 cases), Demarque-van der Woude (28) and holoprosencephaly (22) were the most common syndromes. Malformations and syndromes are more commonly associated with combined clefts of the hard and soft palate, 43.6% and the least with isolated clefts of the lips (12%). Significantly more females, 52.3% (general cleft population – 45.3%) are affected by syndromes than their male counterparts (p<0.05). Of the 56 cases of transverse facial clefts, 37 (66.1%) were associated with isolated malformations and syndromes. Holoprosencephaly (7) was the most common syndrome associated with transverse facial clefts. Conclusions: Congenital malformations and syndromes were reported in 20.6% of the cases in the database and are more commonly associated with cleft palates and female patients.