Mowat–Wilson syndrome

Mowat–Wilson syndrome is a rare genetic disorder that was clinically delineated by Dr. David R. Mowat and Dr. Meredith J. Wilson in 1998.[1][2]

Mowat–Wilson syndrome
Other namesHirschsprung disease-intellectual disability syndrome
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.

Presentation

This autosomal dominant disorder is characterized by a number of health defects including Hirschsprung's disease, intellectual disability, epilepsy,[3] 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.[4] 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.

Causes

The disorder is expressed in an autosomal dominant fashion and may result from a de novo loss of function mutation or total deletion of the ZEB2 gene located on chromosome 2q22.[5]

Prognosis

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.[4]

References
  1. Mowat, DR; Croaker, GD; Cass, DT; Kerr, BA; Chaitow, J; Adès, LC; Chia, NL; Wilson, MJ (1998). "Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: Delineation of a new syndrome and identification of a locus at chromosome 2q22-q23". Journal of Medical Genetics. 35 (8): 617–23. doi:10.1136/jmg.35.8.617. PMC 1051383. PMID 9719364.
  2. "Medical Advisory Board". Mowat-Wilson Syndrome Foundation. Retrieved 12 May 2020.
  3. 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.
  4. Todo A, Harrington JW. New-onset seizures in infant with square facies, hypospadias, and Hirschsprung disease. Consultant for Pediatricians. 2010;9:103-107.
  5. "ZEB2 - zinc finger E-box binding homeobox 2". HUGO Gene Nomenclature Committee. 29 August 2019. Retrieved 30 August 2019.

Further reading
Classification
External resources
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