Mowat–Wilson syndrome

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Mowat–Wilson syndrome
Other namesHirschsprung disease-intellectual disability syndrome
Supportive care

Mowat–Wilson syndrome is a rare genetic disorder that was clinically delineated by David R. Mowat and Meredith J. Wilson in 1998.[1][2] The condition affects both males and females, has been described in various countries and ethnic groups around the world, and occurs in approximately 1 in 50,000–100,000 births.[3]

Presentation

This

Hirschsprung disease, intellectual disability, epilepsy,[4] 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.[5] 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.[citation needed
]

People with this condition have severe intellectual disability in almost all cases; however, a small minority have moderate intellectual disability. Speech is typically limited or absent. Many of those with Mowat–Wilson syndrome also have a distinctive open mouthed, smiling expression and friendly personalities.[6]

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.[7]

Diagnosis

Mowat–Wilson syndrome (MWS) can be diagnosed clinically on the basis of moderate to severe

Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome. The diagnosis of MWS confirmed by demonstrating a pathogenic variant (mutation) in the ZEB2 gene by molecular genetic testing.[8]

Treatment

To date, there is no cure for MWS. Affected individuals should see a

gastroenterologist and or surgeon for Hirschsprung's disease or constipation.[8]

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.[5]

References

  1. PMID 9719364
    .
  2. ^ "Medical Advisory Board". Mowat–Wilson Syndrome Foundation. Retrieved 12 May 2020.
  3. ^ "Mowat-Wilson Syndrome". National Organization for Rare Disorders. Retrieved 14 February 2023.
  4. S2CID 24934018
    .
  5. ^ 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.
  6. ^ "Mowat-Wilson syndrome: MedlinePlus Genetics".
  7. ^ "ZEB2 - zinc finger E-box binding homeobox 2". HUGO Gene Nomenclature Committee. 29 August 2019. Retrieved 30 August 2019.
  8. ^
    PMID 20301585
    .

Further reading

External links

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