Cerebro-Costo-Mandibular Syndrome

Common Name(s)

Cerebro-Costo-Mandibular Syndrome

Cerebrocostomandibular syndrome (CCMS) is characterized mainly by severe micrognathia, rib defects, and mental retardation. A spectrum of rib gap defects have been reported ranging from a few dorsal rib segments to complete absence of ossification. In about half of the 65 reported cases to date, there is cerebral involvement including mental retardation, microcephaly, and histologic anomalies. Both autosomal dominant and recessive inheritance has been described ({21:Zeevaert et al., 2009}). See CDG2G ({611209}) for a cerebrocostomandibular-like syndrome.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cerebro-Costo-Mandibular 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 "Cerebro-Costo-Mandibular Syndrome" returned 7 free, full-text research articles on human participants. First 3 results:

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
 

Author(s): Danielle C Lynch, Timothée Revil, Jeremy Schwartzentruber, Elizabeth J Bhoj, A Micheil Innes, Ryan E Lamont, Edmond G Lemire, Bernard N Chodirker, Juliet P Taylor, Elaine H Zackai, D Ross McLeod, Edwin P Kirk, Julie Hoover-Fong, Leah Fleming, Ravi Savarirayan, , Jacek Majewski, Loydie A Jerome-Majewska, Jillian S Parboosingh, Francois P Bernier

Journal:

 

Elucidating the function of highly conserved regulatory sequences is a significant challenge in genomics today. Certain intragenic highly conserved elements have been associated with regulating levels of core components of the spliceosome and alternative splicing of downstream genes. ...

Last Updated: 22 Jul 2014

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Successful weaning of a laryngeal mask airway after a tongue-lip adhesion operation in a case with cerebro-costo-mandibular syndrome.
 

Author(s): Chi-Yung So, Yan-Yan Ng, Chih-Yu Peng, Jui-Ming Hu, Suh-Jen Chen, Jia-Yuh Chen, Pen-Hua Su

Journal: Pediatr Neonatol. 2010 Feb;51(1):57-60.

 

Cerebro-costo-mandibular syndrome (CCMS) consists of severe micrognathia, glossoptosis, posterior rib-gap defects and developmental delay. It may cause upper airway obstruction andflail chest, resulting in neonatal hypoxia, and possibly death. Early airway management or surgical intervention ...

Last Updated: 15 Mar 2010

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[Prenatal diagnosis of a familial case of Cerebro-costo-mandibular syndrome].
 

Author(s): N Frulio, O Bonnefoy, B Maugey-Laulom, D Roux, D Lacombe, J F Chateil

Journal: J Radiol. 2007 Jun;88(6):897-9.

 

Last Updated: 26 Jul 2007

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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 "Cerebro-Costo-Mandibular 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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