Mowat-Wilson syndrome

Common Name(s)

Mowat-Wilson syndrome

Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. The main features include moderate to severe intellectual disability, distinctive facial features, and epilepsy. Other features may include Hirschsprung disease; heart (cardiac) defects; kidney (renal) abnormalities; genital abnormalities; eye abnormalities; and short stature. It is caused by a mutation or deletion in the ZEB2 gene, which usually occurs for the first time (sporadically) in affected people. Treatment typically focuses on the specific symptoms in each person.
 

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.

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

Last Updated: 8 Apr 2014

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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 11 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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ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.
 

Author(s): Jamal Ghoumid, Loïc Drevillon, Seyedeh Maryam Alavi-Naini, Nadège Bondurand, Marlène Rio, Audrey Briand-Suleau, Mayssa Nasser, Linda Goodwin, Patrick Raymond, Constantin Yanicostas, Michel Goossens, Stanislas Lyonnet, David Mowat, Jeanne Amiel, Nadia Soussi-Yanicostas, Irina Giurgea

Journal: Hum. Mol. Genet.. 2013 Jul;22(13):2652-61.

 

Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and Hirschsprung disease ...

Last Updated: 7 Jun 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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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.