Greig Cephalopolysyndactyly Syndrome

Common Name(s)

Greig Cephalopolysyndactyly Syndrome

Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. Greig cephalopolysyndactyly syndrome is caused by mutations in the GLI3 gene. This condition is inherited in an autosomal dominant pattern.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Greig Cephalopolysyndactyly 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 "Greig Cephalopolysyndactyly Syndrome" returned 4 free, full-text research articles on human participants. First 3 results:

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
 

Author(s): Jane A Hurst, Dagan Jenkins, Pradeep C Vasudevan, Maria Kirchhoff, Flemming Skovby, Claudine Rieubland, Sabina Gallati, Olaf Rittinger, Peter M Kroisel, David Johnson, Leslie G Biesecker, Andrew O M Wilkie

Journal: Eur. J. Hum. Genet.. 2011 Jul;19(7):757-62.

 

Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital malformation characterised by limb and craniofacial anomalies, caused by heterozygous mutation or deletion of GLI3. We report four boys and a girl who were presented with trigonocephaly due to metopic synostosis, ...

Last Updated: 16 Jun 2011

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[7p14.1 microdeletion and Greig cephalopolysyndactyly syndrome].
 

Author(s): D Montoro Cremades, I Manchón Trives, V Botella López, L Alcaraz Más, M R García Martínez, F Galán Sánchez

Journal: An Pediatr (Barc). 2011 Apr;74(4):266-9.

 

Greig cephalopolysyndactyly is a rare autosomic dominant syndrome caused by mutations in GLI3 gene located on cytoband 7p14.1 and characterized by the clinical triad of polysyndactyly, macrocephaly and hypertelorism. In approximately 20% of the cases a deletion of variable size is ...

Last Updated: 4 Apr 2011

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Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization.
 

Author(s): Ilan E Timor-Tritsch, Sarah Kapp, Robert Berg, Bassem A Bejjani, Sara Anne Adams, Ana Monteagudo, Michael Divon, John G Pappas

Journal: J Ultrasound Med. 2009 Dec;28(12):1735-42.

 

Last Updated: 25 Nov 2009

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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 "Greig Cephalopolysyndactyly Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

The Greig cephalopolysyndactyly syndrome.
 

Author(s): Leslie G Biesecker

Journal:

 

The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1-9/1,000,000). The primary findings include hypertelorism, ...

Last Updated: 29 May 2008

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