Abstract

Mowat-Wilson Syndrome is a condition with multiple congenital anomalies which 250 different relevant cases have been published until now. We wanted to present the features of this syndrome in consideration of our patient who was followed from the newborn period.

Our patient, who received the diagnosis of Hirschsprung’s disease (HD) in the neonatal period, was diagnosed as Mowat-Wilson syndrome (MWS),as a result of further investigations because of its typical facial appearance and multiple congenital anomalies.

Mowat-Wilson syndrome is an important entity because it also includes Hirschsprung’s disease (HD)component. Urgent intervention should be planned for a HD patient with typical facial features. Other features of the syndrome should be sought when the final genetic diagnosis is made.