Syndromes Associated With Cleft Lip and Palate. A Systematic Exploratory Review

Cleft lip and palate (CL/P) is one of the most common congenital craniofacial malformations. It is classified as syndromic or non-syndromic. Syndromic CL/ P is associated with other malformations affecting multiple systems, making its diagnosis and management difficult and requiring a multidisciplinary approach. The literature has identified a wide variety of related syndromes, each with characteristics that can modify their approach and significantly influence the patient’s quality of life and prognosis. The objective of this research was to identify the main syndromes associated with CL/P reported in the literature. In November 2024, an exploratory systematic review was conducted in the scientific search engines PubMed, SCielo, Scopus, EBSCO, and WoS using the terms “Cleft lip and palate” AND “Syndrome.” Human studies published in the last 10 years were considered. The search yielded 1,623 papers. Duplicates were removed using Rayyan artificial intelligence, resulting in 892 papers. Filtering was carried out according to title and abstract, and 171 articles were selected. Finally, after a full-text review, 80 articles were included. Although it represents 30% of cases, syndromic CL/P is associated with disorders involving craniofacial anomalies, cardiac, renal, and nervous system defects. The syndrome most frequently associated with CL/ P is Van der Woude Syndrome. Cases of CL/P have also been reported in patients with Roberts syndrome, 22q11.2 deletion, Patau syndrome, ectrodysplasia ectrodactyly with fissure (EEC), Kabuki syndrome, Stickler syndrome, Bohring-Opitz syndrome, Rapp Hodgkin syndrome, Hay- Wells syndrome, Goldenhar syndrome, Treacher Collins syndrome, among others. The diagnosis and management of these cases is complex, requiring a multidisciplinary approach to address complications and improve patient prognosis. Further studies are needed to optimize intervention and treatment strategies, and public policies that involve maxillofacial surgeons early on are essential to comprehensively address cleft lip and palate.

KEY WORDS: cleft lip, cleft palate, syndrome.