Mowat–Wilson Syndrome (MWS) is a multiple congenital anomaly syndrome, first clinically delineated by Mowat DR, et al. in 1998. All afflicted patients exhibit typical dysmorphic features in association with severe intellectual disability and most have microcephaly and seizures. Congenital anomalies such as Hirschsprung disease, congenital heart disease, hypospadias, genitourinary anomalies, agenesis of the corpus callosum and short stature are also common. The syndrome is the result of heterozygous deletions or point mutations in the Zinc finger E-box-binding homeobox 2 gene (ZEB2), at locus 2q22-23. The exact incidence rate is currently unknown because MWS is still an underdiagnosed condition, but it is believed to be at least 1 in 70,000 live births. There is no consensus on clinical diagnostic criteria, but MWS should be suspected in individuals with the typical clinical features and head imaging findings.

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