Cleft lip or palate (CL/P) is a common facial defect present in 1 : 700 live births and results in substantial burden to patients.\r\nThere are more than 500 CL/P syndromes described, the causes of which may be single-gene mutations, chromosomopathies, and\r\nexposure to teratogens. Part of the most prevalent syndromic CL/P has known etiology. Nonsyndromic CL/P, on the other hand,\r\nis a complex disorder, whose etiology is still poorly understood. Recent genome-wide association studies have contributed to the\r\nelucidation of the genetic causes, by raising reproducible susceptibility genetic variants; their etiopathogenic roles, however, are\r\ndifficult to predict, as in the case of the chromosomal region 8q24, the most corroborated locus predisposing to nonsyndromic\r\nCL/P. Knowing the genetic causes of CL/P will directly impact the genetic counseling, by estimating precise recurrence risks, and\r\nthe patient management, since the patient, followup may be partially influenced by their genetic background. This paper focuses\r\non the genetic causes of important syndromic CL/P forms (van der Woude syndrome, 22q11 deletion syndrome, and Robin\r\nsequence-associated syndromes) and depicts the recent findings in nonsyndromic CL/P research, addressing issues in the conduct\r\nof the geneticist.
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