Mowat–Wilson syndrome

Mowat–Wilson 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.
Classification and external resources
OMIM 235730
DiseasesDB 32975

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

Presentation

Mowat–Wilson Syndrome, clinical features of Patient 1 at age: (A) 1 year and 6 months; (B–C) 5 years; (D–E) 13 years and 8 months; (F–G) 18 years.

This autosomal dominant disorder is characterized by a number of health defects including Hirschsprung's disease, intellectual disability, epilepsy,[2] 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.[3] 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.[4]

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 and physical therapy.[3]

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 1051383Freely accessible. PMID 9719364.
  2. 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.
  3. 1 2 Todo A, Harrington JW. New-onset seizures in infant with square facies, hypospadias, and Hirschsprung disease. Consultant for Pediatricians. 2010;9:103-107.
  4. "ZEB2 - zinc finger E-box binding homeobox 2". HUGO Gene Nomenclature Committee. 11 January 2011. Retrieved 2 May 2011.

Further reading

Wikimedia Commons has media related to Mowat–Wilson syndrome.
This article is issued from Wikipedia - version of the 12/3/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.