Clinical characterization of 266 patients and family members with cleft lip and/or palate with associated malformations and syndromes

OBJECTIVES: To clinically characterize patients and family members with cleft lip and/or palate (CL/P) and associated congenital malformations or syndromes and propose possible inheritance patterns. MATERIALS AND METHODS: An observational study of patients with CL/P, including medical and family history and intra- and extra-oral examination of their family members, was performed. RESULTS: Two hundred sixty-six patients, 1257 family members, and 42 pedigrees were included in the study. The distribution of patients according to the cleft type was 57.9% with CLP, 25.2% with cleft palate (CPO), and 12.8% with cleft lip with/without alveolus (CL/A). Seventy-four (27.8%) patients had associated malformations, and 24 (9.2%) a syndrome. The skeletal (27.7%), cardiovascular (19.3%) systems, and eyes (22.9%) were most commonly affected. Pierre Robin Sequence (7 patients) and van der Woude (4) were the most common syndromes. The majority of patients with CPO (19/24) had an associate syndrome. The families had an average of 2.45 affected members. CONCLUSION: Individual and interfamilial phenotypic variability in patients with CL/P makes the understanding of etiopathogenesis challenging. CLINICAL RELEVANCE: The overall prevalence of individuals with CL/P and their pedigrees with associated malformations and syndromes emphasize the need for early identification, interdisciplinary, and long-term planning. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00784-021-03863-2.