Chudley-Mccullough Syndrome

Common Name(s)

Chudley-Mccullough Syndrome, Deafness, Autosomal Recessive 82

Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal (summary by {1:Alrashdi et al., 2011}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chudley-Mccullough 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 "Chudley-Mccullough Syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

GPSM2 mutations in Chudley-McCullough syndrome.
 

Author(s): Oscar Diaz-Horta, Asli Sirmaci, Dan Doherty, Walter Nance, Kathleen Arnos, Arti Pandya, Mustafa Tekin

Journal: Am. J. Med. Genet. A. 2012 Nov;158A(11):2972-3.

 

Last Updated: 19 Oct 2012

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GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.
 

Author(s): Dan Doherty, Albert E Chudley, Gail Coghlan, Gisele E Ishak, A Micheil Innes, Edmond G Lemire, R Curtis Rogers, Aizeddin A Mhanni, Ian G Phelps, Steven J M Jones, Shing H Zhan, Anthony P Fejes, Hashem Shahin, Moien Kanaan, Hatice Akay, Mustafa Tekin, , Barbara Triggs-Raine, Teresa Zelinski

Journal: Am. J. Hum. Genet.. 2012 Jun;90(6):1088-93.

 

Autosomal-recessive inheritance, severe to profound sensorineural hearing loss, and partial agenesis of the corpus callosum are hallmarks of the clinically well-established Chudley-McCullough syndrome (CMS). Although not always reported in the literature, frontal polymicrogyria and ...

Last Updated: 11 Jun 2012

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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 "Chudley-Mccullough 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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