Ectodermal Dysplasia With Ankyloblepharon and Congenital Alveolar Synechia: Expanding the Phenotypic Spectrum

Ankyloblepharon-ectodermal dysplasia-clefting (AEC) lip/palate (Hay-Wells) syndrome is a rare ectodermal dysplasia characterized by ankyloblepharon, ectodermal abnormalities, and orofacial clefting. Congenital alveolar synechia is an extremely rare anomaly that may cause severe feeding and airway difficulties in infants and is most often associated with cleft lip and/or palate. This report describes 2 rare cases of AEC syndrome associated with bilateral congenital alveolar synechia. Both patients presented with markedly restricted mouth opening and significant feeding difficulties. Early surgical excision of the fibrous alveolar bands resulted in immediate improvement in oral function and facilitated subsequent cleft-related surgical management. Genetic analysis did not identify pathogenic TP63 mutations in either case. The coexistence of congenital alveolar synechia with AEC syndrome represents an exceptionally rare and underrecognized clinical entity. Awareness of this association and early multidisciplinary intervention are essential to prevent serious functional complications and optimize developmental outcomes.