Associated Malformations in Children with Orofacial Clefts in Portugal: A 31-Year Study

Orofacial clefts are among the most common congenital craniofacial malformations and may be associated with other birth defects. However, the proportion and type of additional anomalies vary greatly between studies. This study assessed the prevalence and type of associated congenital malformations in children with orofacial clefts, who attended the largest cleft lip and palate tertiary referral center in Portugal.

Consecutive children with orofacial clefts who attended at least 1 consultation in our Clefts Unit between 1981 and 2012 were studied. Demographic and clinical data regarding the number and type of associated malformations were retrospectively collected and analyzed.

Of the 701 patients studied, 219 (31.2%) had associated congenital malformations. These malformations were more frequent in children with cleft palate (43.4%) than in children with cleft lip and palate (27.5%) or with cleft lip only (19.4%). Within the group with associated anomalies, 73 cases (33.3%) had conditions related with known chromosomal defects, monogenic syndromes or sequences, and 146 cases (66.7%) had multiple congenital anomalies of unknown origin. From those, head and neck malformations were the most common (60.3%), followed by malformations in the cardiovascular (28.3%) and musculoskeletal systems (26%).

The overall prevalence of associated malformations of nearly 1 in 3 children with orofacial clefts stressed the need for a comprehensive evaluation of these patients by a multidisciplinary cleft team. Moreover, one-third of the children had multiple congenital anomalies of known origins. Thus, early routine screening for other malformations and genetic counseling might be valuable for orofacial clefts management.