Mowat-Wilson Syndrome

Mowat-Wilson syndrome (MWS) is a rare genetic disorder that causes systemic deficiencies and abnormalities during development. Common presentations of this disorder include Hirschsprung disease (HSCR), intellectual disability, delayed development, distinctive facial features, microcephaly, epilepsy, and heart defects. Prevalence of MWS is estimated between 1/50,000 to 1/70,000 live births, with over 200 cases reported so far. MWS is likely underdiagnosed, especially in patients who do not display HSCR. Prognosis for MWS depends on the severity and presence of congenital anomalies, and few patients have been reported to live into early adulthood. Therapy may also be required to control seizures, while occupational and speech therapy may help with delayed psychomotor development which is prevalent in all patients. MWS is caused by a pathogenic variant of the ZEB2 gene that follows an autosomal dominant pattern of inheritance. A mutation of the ZEB2 gene suggests that the myelination process may represent a potential therapeutic target. Current treatments focus on symptoms, however, a potential therapeutic target may focus on the effects the mutation has on gene expression