Dandy-Walker like Malformation with Atrioventricular Septal Defect

Common Name(s)

Dandy-Walker like Malformation with Atrioventricular Septal Defect

The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have severe developmental delay (summary by {11:Leonardi et al., 2001}; {19:Seidahmed et al., 2011}). Genetic Heterogeneity of Ritscher-Schinzel Syndrome See also RTSC2 ({300963}), caused by mutation in the CCDC22 gene ({300859}) on chromosome Xp11.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dandy-Walker like Malformation with Atrioventricular Septal Defect" 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: 17 Jun 2016

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dandy-Walker like Malformation with Atrioventricular Septal Defect" 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: 17 Jun 2016

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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 like Malformation with Atrioventricular Septal Defect" returned 0 free, full-text research articles on human participants.

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 like Malformation with Atrioventricular Septal Defect" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.