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Marden-Walker syndrome

Other Names for this Disease
  • Connective tissue disorder Marden Walker type
  • MWS
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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.[1][2][3][4]  
Last updated: 5/27/2011


  1. Garavelli L, Donadio A, Banchini G, Magnani C, Magnani C, Calzolari E, Fryns JP. Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling.. Genet Couns. 2000; Accessed 5/27/2011.
  2. Marden Walker Syndrome. National Organization for Rare Disorders (NORD). 2004; Accessed 5/27/2011.
  3. Ponsot G. Marden-Walker syndrome. Orphanet. 2003; Accessed 5/27/2011.
  4. Dumic M, Rojnic-Putarek N, Skrablin-Kucic S, Matic T, Ille J, Radica A. Marden-Walker syndrome--a case report. Lijec Vjesn. 2009; Accessed 5/27/2011.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Marden-Walker syndrome. Click on the link to view a sample search on this topic.