Familial and Genetic Factors in Laryngeal Cleft: Have we learned anything?

Abstract Introduction Laryngeal clefts are rare congenital anomalies characterized by failed fusion of the posterior cricoid lamina or incomplete development of the tracheoesophageal septum. While most cases are sporadic, laryngeal cleft may be associated with other congenital anomalies or syndromes. Though not frequently reported, familial occurrence of laryngeal cleft has been noted in our clinical experience. The goal of this research is to describe the existing literature and our own experience surrounding familial occurrence of laryngeal cleft that may help elucidate its underlying genetic basis. Methods Comprehensive literature search was conducted and retrospective chart review was performed on 8 sets of siblings diagnosed at our institution. Data assessed included demographics, type of cleft, and genetic findings. Results Laryngeal cleft appears to be mostly sporadic. We evaluated data at our institution over a 10-year period and identified 19 patients from 8 families demonstrating familial occurrence of laryngeal cleft. Six (75%) families had two affected siblings, one family (12.5%) had three affected siblings, and one family (12.5%) had four affected siblings. There was no evidence of sex predilection, with half the patients being male (10/19, 52.6%). Fourteen patients (73.7%) had Type 1 clefts and five (26.3%) had Type 2 clefts. Genetic findings were available for review in five patients from three families. Conclusion Beyond a few known syndromes, laryngeal cleft has largely been thought to be sporadic. However, findings from the existing literature and our own experience with familial laryngeal cleft in eight families suggest additional genetic factors are yet to be elucidated.