Mowat–Wilson syndrome

Mowat–Wilson syndrome
Other names	Hirschsprung 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.
Differential diagnosis	Smith Lemli Opitz syndrome, Angelman syndrome, Goldberg Shprintzen megacolon syndrome
Treatment	Supportive care

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]

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.^{[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.^[5]

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.^[6]

Diagnosis[]

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Treatment[]

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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[]

Further reading[]

• 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 1735678. 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 1735450. PMID 12746390.

External links[]

Wikimedia Commons has media related to Mowat–Wilson syndrome.

• GeneReview of Mowat–Wilson syndrome