Mowat-Wilson syndrome (MWS) is a rare mental retardation-multiple congenital 
anomalies syndrome associated with typical facial dysmorphism. Patients can show 
a variety of other anomalies like short stature, microcephaly, Hirschsprung 
disease, malformations of the brain, seizures, congenital heart defects and 
urogenital anomalies. Mutations leading to haploinsufficiency of the ZFHX1B gene 
have been described as the underlying cause of this condition. We report on the 
clinical findings in a 2(1/2)-year-old boy with some aspects out of the 
MWS-spectrum in addition to unusual anomalies and a novel missense mutation in 
the ZFHX1B gene.