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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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 16 free, full-text research articles on human participants. First 3 results:

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
 

Author(s): Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Chiara Baldo, Allan Bayat, Elga Belligni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Koenraad Devriendt, Mary Beth Dinulos, Olivera Djuric, Roberta Epifanio, Francesca Faravelli, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Didier Lacombe, Massimo Maggi, Baris Malbora, Isabella Mammi, Sebastien Moutton, Rikke Møller, Petra Muschke, Manuela Napoli, Chiara Pantaleoni, Rosario Pascarella, Alessandro Pellicciari, Maria Luisa Poch-Olive, Federico Raviglione, Francesca Rivieri, Carmela Russo, Salvatore Savasta, Gioacchino Scarano, Angelo Selicorni, Margherita Silengo, Giovanni Sorge, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Marcella Zollino, William B Dobyns, Alex R Paciorkowski

Journal: Genet. Med.. 2017 06;19(6):691-700.

 

Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency ...

Last Updated: 31 Dec 1969

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Psychopharmacological Management of Problem Behaviors in Mowat-Wilson Syndrome.
 

Author(s): Aaron D Besterman, Robert L Hendren

Journal: J Child Adolesc Psychopharmacol. 2015 Oct;25(8):656-7.

 

Last Updated: 31 Dec 1969

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Hirschsprung disease associated with Mowat-Wilson syndrome: report of a case.
 

Author(s): Elena Ferris Villanueva, Rocío Guerrero Bautista, Amelia Chica Marchal

Journal:

 

Hirschsprung's disease (HD) or aganglionicmegacolon is a congenital disorder characterized by the absence of ganglion intramural cells of the submucosal myenteric plexus (namely Auerbach and Meissner,respectively) in distal sections of the intestine. This is due to a failure in the ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.