Mowat–Wilson syndrome (MWS) is characterized by moderate to severe intellectual
disability and distinctive facial features in association with variable structural congenital
anomalies/clinical features including congenital heart disease, Hirschsprung disease,
hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and microcephaly.
Less common clinical features include ocular anomalies, craniosynostosis, mild intellectual
disability, and choanal atresia. These cases may be more difficult to diagnose. In this report …

"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed
by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal
of Medical Genetics Part A. 164:2557-2566, 2014 "CHARGE-like presentation,
craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the
distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics
Part A. 164:2557-2566, 2014 …