|Mowat–Wilson syndrome, clinical features of Patient 2 at age: (A) 1 year and 6 months; (B–C) 3 years and 5 months; (D–E) 8 years and 1 month.|
|Classification and external resources|
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.
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- 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. PMID 23322667.
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- "ZEB2 - zinc finger E-box binding homeobox 2". HUGO Gene Nomenclature Committee. 11 January 2011. Retrieved 2 May 2011.
- Cerruti Mainardi, P; Pastore, G; Zweier, C; Rauch, A (2004). "Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: A well defined clinical entity". Journal of Medical Genetics. 41 (2): e16. doi:10.1136/jmg.2003.009548. PMC . PMID 14757866.
- Mowat, DR; Wilson, MJ; Goossens, M (2003). "Mowat-Wilson syndrome". Journal of Medical Genetics. 40 (5): 305–10. doi:10.1136/jmg.40.5.305. PMC . PMID 12746390.
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