This autosomal dominant disorder is characterized by a number of health defects including Hirschsprung's disease, intellectual disability, epilepsy, delayed growth and motor development, congenital heart disease, genitourinary anomalies and absence of the corpus callosum. However, Hirschsprung's disease is not present in all infants with Mowat–Wilson syndrome and therefore it is not a required diagnostic criterion. Distinctive physical features include microcephaly, narrow chin, cupped ears with uplifted lobes with central depression, deep and widely set eyes, open mouth, wide nasal bridge and a shortened philtrum.
There is no cure for this syndrome. Treatment is supportive and symptomatic. All children with Mowat–Wilson syndrome required early intervention with speech therapy, occupational therapy and physical therapy.
^Cordelli, DM; Garavelli, L; Savasta, S; Guerra, A; Pellicciari, A; Giordano, L; Bonetti, S; Cecconi, I; et al. (2013). "Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype". American Journal of Medical Genetics Part A. 161A (2): 273–84. doi:10.1002/ajmg.a.35717. PMID23322667.