Mowat-Wilson syndrome is a genetic disease characterized by typical facial 
features, Hirschsprung disease and multiple congenital abnormalities. MWS is a 
single gene disorder. One of the most specific clinical signs in MWS is the 
distinctive face. We report a two-year-old boy with multiple congenital 
anomalies. He had peripupillary atrophy and gingival hypertrophy different from 
the literature. The patient was also diagnosed with his clinical findings. These 
features may be important in Mowat-Wilson syndrome and clinicians should keep 
these findings in mind.