We present a clinical case of a female infant with multiple anomalies and 
distinctive facial features, with an exceptionally severe clinical course of 
Hirschsprung disease. The girl was also diagnosed with Mowat-Wilson syndrome, 
confirmed by molecular analysis as a heterozygous deletion of the ZEB2 gene. 
Moreover, molecular karyotyping revealed a deletion involving further genes 
(KYNU, ARHGAP15, and GTDC1).