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 ({19: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 5 free, full-text research articles on human participants. First 3 results:

[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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The cerebro-costo-mandibular syndrome: 9-year follow-up of a case.
 

Author(s): H S Hosalkar, B A Shaw, C L Ceppi, B C Ng

Journal: J Postgrad Med. ;46(4):268-71.

 

Cerebro-costo-mandibular syndrome (CCMS) is a rare multiple congenital anomaly with a low survival rate. There are few reports of long-term survival in this condition. We describe the findings and management of a 9-year-old survivor of CCMS, outline the importance of early intervention ...

Last Updated: 3 Jul 2001

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Complete absence of rib ossification, micrognathia and ear anomalies: extreme expression of cerebro-costo-mandibular syndrome?
 

Author(s): R C Hennekam, R Goldschmeding

Journal: Eur. J. Hum. Genet.. 1998 Jan;6(1):71-4.

 

We describe a newborn with complete absence of ossification of the ribs, extreme micrognathia, absence of external ear canals and the inner ears, and diminished mobility in the upper extremities. It is suggested that this represents an unusually severe expression of the cerebro-costo-mandibular ...

Last Updated: 10 Nov 1998

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Reviews from the PubMed Database

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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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