Cleft Larynx, Posterior

Clinical Features

Zachary and Emery (1961) reported 3 cases of lack of fusion of the posterior larynx and persistence of common tracheoesophagus. Two of these were sibs, the mother having 2 other normal children. One was male, the sex of the second was not stated. In sporadic cases males and females are affected about equally often. Finlay (1949) and Crooks (1954) described a family of 5 girls, 4 of whom had laryngeal stridor. At least 2 had cleft larynx. Ordinary tracheoesophageal fistula (189960) shows little familial aggregation.

Phelan et al. (1973) described a remarkable kindred in which 2 brothers married 2 sisters and each married couple had 3 affected children. The authors proposed autosomal dominant inheritance, but this would seem improbable, requiring lack of penetrance in 3 individuals--one parent of each sibship and one parent of those two. Phelan et al. (1995) reported findings in the first child of patient 16 (Lyndal) in the report of Phelan et al. (1973). The child was diagnosed at laryngoscopy and bronchoscopy as having a posterior laryngeal cleft that extended down to the cricoid cartilage. The father of the child was unrelated to the mother. Patient 14 (Judith) had 2 children, of whom one had laryngomalacia but no cleft and the other had no symptoms of laryngeal disease. The other affected women had no children. The occurrence of this malformation in the next generation supported the hypothesis of autosomal dominant inheritance.

Laryngotracheoesophageal cleft has been observed in the Opitz GBBB syndrome (145410) (Cote et al., 1981). It also occurs in the Pallister-Hall syndrome (146510) (Hall et al., 1980). Ondrey et al. (2000) concluded that posterior laryngeal clefts are an uncommon manifestation of Pallister-Hall syndrome and occur only in severely affected patients.