Mowat-Wilson syndrome

Common Name(s)

Mowat-Wilson syndrome

Mowat-Wilson syndrome (MWS) is a rare genetic disorder mainly characterized by intellectual disability, distinctive facial features and seizures. Other findings vary and may include Hirschsprung disease; heart (cardiac) defects; kidney (renal) abnormalities; male genital abnormalities; and short stature. It is caused by mutations in the ZEB2 gene, which usually occur as new mutations in the affected individual. The treatment of MWS is typically directed toward the specific symptoms that are apparent in each individual.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mowat-Wilson syndrome" for support, advocacy or research.

Mowat Wilson Support

We are a support group and website where families can share information about Mowat-Wilson Syndrome. Our website includes support group information, a forum, photos and profiles of children with MWS and parent survey pages. We want to help inform the public about this rare condition and to help those affected by it not feel so alone by giving them a place to exchange information and experiences with others in the same situation.

http://www.mowatwilson.org

Last Updated: 6 Mar 2014

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Mowat-Wilson Syndrome Foundation

The mission of the foundation is as follows. Enhance the lives of people affected by Mowat-Wilson Syndrome. Provide family support. Raise awareness. Support research and education

http://www.mowat-wilson.org

Last Updated: 8 Apr 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mowat-Wilson syndrome" for support, advocacy or research.

Mowat Wilson Support

We are a support group and website where families can share information about Mowat-Wilson Syndrome. Our website includes support group information, a forum, photos and profiles of children with MWS and parent survey pages. We want to help inform the public about this rare condition and to help those affected by it not feel so alone by giving them a place to exchange information and experiences with others in the same situation.

http://www.mowatwilson.org

Last Updated: 6 Mar 2014

View Details
Mowat-Wilson Syndrome Foundation

The mission of the foundation is as follows. Enhance the lives of people affected by Mowat-Wilson Syndrome. Provide family support. Raise awareness. Support research and education

http://www.mowat-wilson.org

Last Updated: 8 Apr 2014

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Mowat-Wilson syndrome" returned 10 free, full-text research articles on human participants. First 3 results:

Vagus nerve stimulation for drug-resistant epilepsy in a patient with Mowat-Wilson syndrome.
 

Author(s): Juan C Benedetti-Isaac, Martín Torres-Zambrano, Gabriel Alcalá-Cerra, Juan J Gutiérrez-Paternina

Journal: Neurol India. ;61(3):306-7.

 

Last Updated: 17 Jul 2013

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A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene.
 

Author(s): Cihan Meral, Bariy Malbora, Fatih Celikel, Gökhan Aydemir, Selami Süleymanoğlu, Marcella Zollino, Murat Derbent

Journal: Turk. J. Pediatr.. ;54(5):523-7.

 

Mowat-Wilson syndrome (MWS) is characterized by severe mental retardation with seizures, specific facial dysmorphism, Hirschsprung disease, anomalies of the corpus callosum, and genitourinary and cardiac malformations. The cause of MWS is a de novo mutation in the ZEB2 gene. This ...

Last Updated: 22 Feb 2013

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A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes.
 

Author(s): Muna M El-Kasti, Timothy Wells, David A Carter

Journal: Hum. Mol. Genet.. 2012 Dec;21(26):5429-42.

 

The zinc-finger, E-box-binding homeobox-2 (Zeb2) gene encodes a SMAD-interacting transcription factor that has diverse roles in development and disease. Mutations at the hZeb2 locus cause Mowat-Wilson syndrome (MWS), a genetic disorder that is associated with mental retardation and ...

Last Updated: 11 Dec 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Mowat-Wilson syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Mowat-Wilson syndrome.
 

Author(s): Livia Garavelli, Paola Cerruti Mainardi

Journal:

 

Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, ...

Last Updated: 4 Jan 2008

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Mowat-Wilson syndrome.
 

Author(s): D R Mowat, M J Wilson, M Goossens

Journal: J. Med. Genet.. 2003 May;40(5):305-10.

 

MWS is a multiple congenital anomaly syndrome, first clinically delineated by Mowat et al in 1998. Over 45 cases have now been reported. All patients have typical dysmorphic features in association with severe intellectual disability, and nearly all have microcephaly and seizures. ...

Last Updated: 14 May 2003

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.