Band-like calcification with simplified gyration and polymicrogyria

Common Name(s)

Band-like calcification with simplified gyration and polymicrogyria

Pseudo-TORCH syndrome-1 is an autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria, and severe developmental delay ({12:Reardon et al., 1994}; {11:O'Driscoll et al., 2010}). {7,6:Crow et al. (2000, 2003)} called attention to the phenotypic overlap of pseudo-TORCH syndrome and Aicardi-Goutieres syndrome (AGS; {225750}), and even suggested that some cases may represent the same disorder. Congenital microcephaly, thrombocytopenia, hepatic dysfunction, and hepatosplenomegaly are usually associated with pseudo-TORCH syndrome and not with AGS, but some patients with AGS have shown these features. Genetic Heterogeneity of Pseudo-TORCH Syndrome See also PTORCH2 ({617397}), caused by mutation in the USP18 gene ({607057}) on chromosome 22q11.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Band-like calcification with simplified gyration and polymicrogyria" for support, advocacy or research.

PMG Awareness Organization, Inc.

The PMG Awareness Organization is an international non-profit organization of families, caregivers, and medical professionals who care about those with Polymicrogyria. Our mission is to promote awareness, diagnosis, and the treatment of Polymicrogyria through education, research, advocacy, and support for individuals with Polymicrogyria, their families, and other concerned parties.

Last Updated: 20 Feb 2013

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Band-like calcification with simplified gyration and polymicrogyria" for support, advocacy or research.

PMG Awareness Organization, Inc.

The PMG Awareness Organization is an international non-profit organization of families, caregivers, and medical professionals who care about those with Polymicrogyria. Our mission is to promote awareness, diagnosis, and the treatment of Polymicrogyria through education, research, advocacy, and support for individuals with Polymicrogyria, their families, and other concerned parties.

http://www.pmgawareness.org

Last Updated: 20 Feb 2013

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General Support Organizations

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General Resources

PMG Awareness Educational Pamphlet Inside

Educational resource about Polymicrogyria

Updated 16 Dec 2012

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PMG Awareness Education Pamphlet Outside

Educational Pamphlet about polymicrogyria

Updated 16 Dec 2012

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PMG Awareness' FaceBook GROUP [age

This is our FaceBook GROUP support page that allows family, friends, and supporters to post and receive feedback from other members of the group.

Updated 13 Jan 2013

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Blogs

PMG Awareness Organization's Blog

PMG Awareness Organizational Blog

Updated 16 Dec 2012

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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 "Band-like calcification with simplified gyration and polymicrogyria" 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 "Band-like calcification with simplified gyration and polymicrogyria" 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

There are currently no open clinical trials for this condition.