Introduction: Orofacial clefts (OFCs) are a common congenital craniofacial malformation that derive from a complexity of genetic and environmental factors. Although OFCs are usually an isolated malformations, over 400 syndromes have been reported in association.
Purpose: This study aims to characterize patients with syndromic OFCs that attend Cleft Lip/Palate multidisciplinary group clinic at Centro Hospitalar Universitário de São João in Porto-Portugal.
Methods: A retrospective analysis of medical records from a cohort of patients that were observed between January 1992 and December 2018 was performed. The OFCs types were listed according to the Spina classification modified by Silva-Filho et al. OFCs laterality, family history, associated syndromes and identified gene anomalies were collected.
Results: The group included 617 patients, of which 57.3% were males. From the total, 18.6% had cleft lip, 38.1% had cleft lip and palate and 42% isolated cleft palate, which was the most frequent. The least frequent was the group of atypical clefts (1.3%). One hundred and fifty-seven patients (25.4%) had a family history of clefting. Syndromes were identified in 149 of the patients: Pierre Robin sequence was the most common (n=48; 32.2%), followed by 22q11.2 deletion syndrome, Van der Woude, Goldenhar and oral-facial-digital syndrome. Pierre Robin sequence occurred with additional syndromes in 18 cases (12.1%).
Discussion: This cohort has a 24.1% of an identifiable syndrome, number higher than described in the literature. The importance of monitoring the OFCs and associated syndromes is a key element not only to tailor the approach and management of the OFCs, the possible complications and to provide accurate and insightful genetic counseling.
Key words: Genetic syndromes, Orofacial clefts, Syndromic Orofacial Clefts