Dandy-Walker Syndrome

Common Name(s)

Dandy-Walker Syndrome, Dandy-Walker complex

Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by {11:Murray et al., 1985}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dandy-Walker Syndrome" for support, advocacy or research.

Dandy-Walker Alliance, Inc.

The Dandy-Walker Alliance, Inc. is a non-profit corporation providing support and outreach to families, producing educational publications, hosting awareness events and programs, and funding research for the most common malformation of the hindbrain region, Dandy-Walker Syndrome. We support all efforts to determine the causes of, find the cure for and to ameliorate the effects of Dandy-Walker Syndrome.

Last Updated: 13 May 2014

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dandy-Walker Syndrome" for support, advocacy or research.

Dandy-Walker Alliance, Inc.

The Dandy-Walker Alliance, Inc. is a non-profit corporation providing support and outreach to families, producing educational publications, hosting awareness events and programs, and funding research for the most common malformation of the hindbrain region, Dandy-Walker Syndrome. We support all efforts to determine the causes of, find the cure for and to ameliorate the effects of Dandy-Walker Syndrome.

http://www.dandy-walker.org

Last Updated: 13 May 2014

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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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 "Dandy-Walker Syndrome" returned 14 free, full-text research articles on human participants. First 3 results:

[Dandy-Walker syndrome: diagnosis by intrauterine magnetic resonance imaging].
 

Author(s): Salvador Alandete-Germán, Àngels Meseguer-Ripollés, Esther Bartoll-Alguacil, Cecilio Poyatos

Journal: Rev Neurol. 2014 Mar;58(6):284.

 

Last Updated: 10 Mar 2014

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AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
 

Author(s): Pierre Cacciagli, Jean-Pierre Desvignes, Nadine Girard, Marc Delepine, Diana Zelenika, Mark Lathrop, Nicolas Lévy, David H Ledbetter, William B Dobyns, Laurent Villard

Journal: Eur. J. Hum. Genet.. 2014 Mar;22(3):363-8.

 

MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy-Walker malformation and inconstant choreoathetosis. Four individuals had iron deposition in the ...

Last Updated: 13 Feb 2014

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Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.
 

Author(s): Alessandro Ferraris, Laura Bernardini, Vesna Sabolic Avramovska, Ginevra Zanni, Sara Loddo, Elena Sukarova-Angelovska, Valentina Parisi, Anna Capalbo, Stefano Tumini, Lorena Travaglini, Francesca Mancini, Filip Duma, Sabina Barresi, Antonio Novelli, Eugenio Mercuri, Luigi Tarani, , Enrico Bertini, Bruno Dallapiccola, Enza Maria Valente

Journal:

 

The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data ...

Last Updated: 30 May 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 "Dandy-Walker Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Molecular Investigations Into Ciliopathies
 

Status: Recruiting

Condition Summary: Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

 

Last Updated: 6 Jan 2015

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Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies)
 

Status: Recruiting

Condition Summary: PHACE Syndrome

 

Last Updated: 31 Oct 2013

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Brain Development Research Program
 

Status: Recruiting

Condition Summary: Brain Disorders; Aicardi Syndrome

 

Last Updated: 14 Jan 2015

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