Syndromes and anomalies associated with orofacial clefts: A 15-year review

Abstract

Introduction: Orofacial clefts (OFC) may present with other congenital anomalies and syndromes. Objectives: The aim of this study was to identify anomalies and syndromes associated with OFC and determine their prevalence in patients with OFC. Methodology: This retrospective study included patients with OFC and congenital anomalies and syndromes who presented at the Lagos University Teaching Hospital from January 2009 through December 2023. Demographic, OFC, anomaly, and syndrome characteristics were recorded. Results: A total of 1,032 patients with OFC presented, 152 (14.7%) had associated anomalies, and majority (56.6%) were female. Patients’ ages ranged from 3 days to 43 years with a median (interquartile range) of 3.0 (0.7–6.0) months. Twenty (13.2%) patients had cleft lip and alveolus only, 42 (27.6%) had cleft palate only (CP), 72 (47.4%) had cleft lip, alveolus, and palate (CLP), and 18 (11.8%) had Tessier cleft. Associated anomalies were delayed developmental (30.3%), cranial (38.2%), maxillofacial (58.6%), ophthalmic (51.3%), rhinologic (29.6%), otologic (26.3%), cardiovascular (41.4%), upper limb (20.4%), lower limb (17.1%), genitourinary (19.7%), and skin (5.3%) anomalies. From the records of the 1032 patients, only 58 (5.6%) out of the 152 included patients, had identifiable syndromes. The most common syndromes were the Pierre-Robin sequence (27.6%), Van-der-Woude syndrome (19.0%), and Down syndrome (10.3%). These associated anomalies and syndromes were most seen in patients with CLP and CP, respectively ( P < 0.05 for both associations). Conclusion: This study suggested a relatively high prevalence of associated anomalies and syndromes of OFC. Pierre Robin sequence was the most associated syndrome.