Family Clustering of Orofacial Cleft in Burundi

Abstract

Familial aggregation of nonsyndromic cleft of the primary and secondary palate is recognized, but involvement of all children within a nuclear family is rare. During a cleft outreach program in 2012 in Kayanza Province, Burundi, a family consisting of an affected father, an unaffected mother, and six affected children was identified. The children, three males and three females aged 5–17 years, had no reported antenatal risk factors or other family history of facial clefting and no known consanguinity. The cleft phenotype comprised a complete bilateral cleft of the primary palate in the father and four children, with unilateral defect in two children. There was no involvement of the secondary palate and no associated congenital anomalies. All affected individuals underwent cleft repair with uneventful postoperative outcomes. Genetic analysis was not performed due to limited local resources. This case represents an extreme example of familial clustering of nonsyndromic cleft of the primary palate, suggestive of a model of high genetic susceptibility consistent with multifactorial or oligogenic inheritance rather than single-gene causation. This case underscores the importance of genetic counseling in families with marked clustering of nonsyndromic clefts, to support accurate recurrence risk communication and informed reproductive planning, especially in low-resource settings.