Mowat–Wilson syndrome

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Mowat–Wilson syndrome
Classification and external resources
Mowat-Wilson-2.JPEG
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.
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[edit]

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, mental retardation, 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[edit]

The disorder is expressed in an autosomal dominant fashion and may result from a de novo (new) mutation or deletions of the ZEB2 (also known as ZFHX1B or SMADIP1) gene on chromosome 2q22.[4]

However, some of those affected by the disease do not have abnormalities of this gene that are currently detectable.[citation needed]

Prognosis[edit]

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[edit]

  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. ^ 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. ^ a b 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[edit]

External links[edit]