Mowat–Wilson syndrome
(Redirected from Mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease)
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[edit | edit source]
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[edit | edit source]
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]
Diagnosis[edit | edit source]
This section is empty. You can help by adding to it. (July 2017) |
Treatment[edit | edit source]
This section is empty. You can help by adding to it. (July 2017) |
Prognosis[edit | edit source]
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[edit | edit source]
- ↑
- ↑ "Medical Advisory Board". Mowat-Wilson Syndrome Foundation. Retrieved 12 May 2020.
- ↑
- ↑ 4.0 4.1 Todo A, Harrington JW. New-onset seizures in infant with square facies, hypospadias, and Hirschsprung disease. Consultant for Pediatricians. 2010;9:103-107.
- ↑ "ZEB2 - zinc finger E-box binding homeobox 2". HUGO Gene Nomenclature Committee. 29 August 2019. Retrieved 30 August 2019.
Further reading[edit | edit source]
External links[edit | edit source]
Classification | |
---|---|
External resources |
- Centre for Genetics Education in Sydney, Australia (PDF Information Sheet)
- GeneReview of Mowat–Wilson syndrome
- Mowat-Wilson Syndrome Foundation
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
- Articles to be expanded from July 2017
- All articles to be expanded
- Articles with empty sections from July 2017
- All articles with empty sections
- Articles using small message boxes
- Transcription factor deficiencies
- Rare syndromes
- Genetic syndromes
- Syndromes affecting the gastrointestinal tract
- Syndromes affecting the heart
- Syndromes affecting the nervous system
- Syndromes with mental retardation
- Syndromes with craniofacial abnormalities
Contributors: Prab R. Tumpati, MD