Marden-Walker syndrome

Common Name(s)

Marden-Walker syndrome, Marden Walker Syndrome

Marden-Walker syndrome is a connective tissue disorder characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation (a generalized slowing down of physical reactions, movements, and speech). While the underlying cause has not been clearly established, it is believed to be a developmental disorder of the central nervous system which is inherited in an autosomal recessive manner.  
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Marden-Walker syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Marden-Walker syndrome" returned 3 free, full-text research articles on human participants. First 3 results:

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
 

Author(s): Margaret J McMillin, Anita E Beck, Jessica X Chong, Kathryn M Shively, Kati J Buckingham, Heidi I S Gildersleeve, Mariana I Aracena, Arthur S Aylsworth, Pierre Bitoun, John C Carey, Carol L Clericuzio, Yanick J Crow, Cynthia J Curry, Koenraad Devriendt, David B Everman, Alan Fryer, Kate Gibson, Maria Luisa Giovannucci Uzielli, John M Graham, Judith G Hall, Jacqueline T Hecht, Randall A Heidenreich, Jane A Hurst, Sarosh Irani, Ingrid P C Krapels, Jules G Leroy, David Mowat, Gordon T Plant, Stephen P Robertson, Elizabeth K Schorry, Richard H Scott, Laurie H Seaver, Elliott Sherr, Miranda Splitt, Helen Stewart, Constance Stumpel, Sehime G Temel, David D Weaver, Margo Whiteford, Marc S Williams, Holly K Tabor, Joshua D Smith, Jay Shendure, Deborah A Nickerson, , Michael J Bamshad

Journal: Am. J. Hum. Genet.. 2014 May;94(5):734-44.

 

Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital contractures of the hands and feet. Exome sequencing of five GS-affected families identified mutations in piezo-type mechanosensitive ion channel ...

Last Updated: 5 May 2014

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Two brothers with the Marden-Walker syndrome: case report and review.
 

Author(s): F M Howard, P Rowlandson

Journal: J. Med. Genet.. 1981 Feb;18(1):50-3.

 

Last Updated: 15 Sep 1981

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The Marden-Walker syndrome.
 

Author(s): C R King, E Magenis

Journal: J. Med. Genet.. 1978 Oct;15(5):366-9.

 

The characteristic facies, joint contractures, muscular hypotonia, and growth and developmental delay of the Marden-Walker syndrome were present in a 19-month-old boy. Extensive evaluation of the neuromuscular system failed to identify a specific abnormality. Electromyography was ...

Last Updated: 25 Apr 1979

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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 "Marden-Walker syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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