Syngnathia and associated congenital anomalies in an infant: A case report

Congenital syngnathia, a rare craniofacial anomaly characterized by maxillomandibular fusion, has challenges in feeding, respiration, and development. While often associated with syndromes or genetic mutations, its etiology remains unclear. Here, we presented syngnathia in a preterm infant with additional anomalies, such as hemangiomas and cardiac defects.

A 15-week preterm female presented with syngnathia (mucosal and bony fusion), microcephaly, thigh hemangioma, and cardiac defects (patent ductus arteriosus/ventricular septal defect). Genetic testing revealed a 1.66 Mb Xp22.31 deletion. Surgical separation with custom stent placement restored oral function, with no recurrence at follow-up. Postoperative stability and improved feeding were achieved.

There is a need for early surgical intervention and multidisciplinary care in managing congenital syngnathia, especially when associated with additional anomalies such as microcephaly, hemangiomas, and cardiac defects. The case highlights potential syndromic associations, the utility of imaging and genetic evaluation, and the role of tailored postoperative strategies.

Early surgical intervention, multidisciplinary care, and genetic evaluation are necessary in syngnathia management. The Xp22.31 deletion expands the phenotypic spectrum, though syndromic links remain unclear. Custom stents and long-term monitoring optimize outcomes.