Carpenter Syndrome

Common Name(s)

Carpenter Syndrome

Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by {2:Altunhan et al., 2011}). Genetic Heterogeneity of Carpenter Syndrome Carpenter syndrome-2 (CRPT2; {614976}), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene ({604267}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.
 

Author(s): Stephen R F Twigg, Deborah Lloyd, Dagan Jenkins, Nursel E Elçioglu, Christopher D O Cooper, Nouriya Al-Sannaa, Ali Annagür, Gabriele Gillessen-Kaesbach, Irina Hüning, Samantha J L Knight, Judith A Goodship, Bernard D Keavney, Philip L Beales, Opher Gileadi, Simon J McGowan, Andrew O M Wilkie

Journal: Am. J. Hum. Genet.. 2012 Nov;91(5):897-905.

 

Carpenter syndrome is an autosomal-recessive multiple-congenital-malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many other clinical features occur, and the most frequent include obesity, umbilical hernia, cryptorchidism, ...

Last Updated: 5 Nov 2012

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Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.
 

Author(s): Dagan Jenkins, Gareth Baynam, Luc De Catte, Nursel Elcioglu, Michael T Gabbett, Louanne Hudgins, Jane A Hurst, Fernanda Sarquis Jehee, Christine Oley, Andrew O M Wilkie

Journal: Hum. Mutat.. 2011 Apr;32(4):E2069-78.

 

Carpenter syndrome, a rare autosomal recessive disorder characterized by a combination of craniosynostosis, polysyndactyly, obesity, and other congenital malformations, is caused by mutations in RAB23, encoding a member of the Rab-family of small GTPases. In 15 out of 16 families ...

Last Updated: 17 Mar 2011

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RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.
 

Author(s): Dagan Jenkins, Dominik Seelow, Fernanda S Jehee, Chad A Perlyn, Luis G Alonso, Daniela F Bueno, Dian Donnai, Dragana Josifova, Dragana Josifiova, Irene M J Mathijssen, Jenny E V Morton, Karen Helene Orstavik, Elizabeth Sweeney, Steven A Wall, Jeffrey L Marsh, Peter Nurnberg, Maria Rita Passos-Bueno, Andrew O M Wilkie

Journal: Am. J. Hum. Genet.. 2007 Jun;80(6):1162-70.

 

Carpenter syndrome is a pleiotropic disorder with autosomal recessive inheritance, the cardinal features of which include craniosynostosis, polysyndactyly, obesity, and cardiac defects. Using homozygosity mapping, we found linkage to chromosome 6p12.1-q12 and, in 15 independent families, ...

Last Updated: 15 May 2007

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Reviews from the PubMed Database

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The terms "Carpenter 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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