Saethre-Chotzen syndrome

Common Name(s)

Saethre-Chotzen syndrome

Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among affected individuals in the same family. Mutations in the TWIST1 gene cause Saethre-Chotzen syndrome. This condition is inherited in an autosomal dominant pattern. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Saethre-Chotzen syndrome" for support, advocacy or research.

Craniosynostosis and Positional Plagiocephaly Support Inc

Our mission is to spread awareness, educate and offer support and guidance to families affected by Craniosynostosis and/or Positional Plagiocephaly as well as any craniofacial concern affecting the skull.

www.cappskids.org

Last Updated: 22 Apr 2011

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Saethre-Chotzen syndrome" for support, advocacy or research.

Craniosynostosis and Positional Plagiocephaly Support Inc

Our mission is to spread awareness, educate and offer support and guidance to families affected by Craniosynostosis and/or Positional Plagiocephaly as well as any craniofacial concern affecting the skull.

www.cappskids.org

Last Updated: 22 Apr 2011

View Details

 

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 "Saethre-Chotzen syndrome" returned 18 free, full-text research articles on human participants. First 3 results:

Down-regulation of ubiquitin ligase Cbl induced by twist haploinsufficiency in Saethre-Chotzen syndrome results in increased PI3K/Akt signaling and osteoblast proliferation.
 

Author(s): Hind Guenou, Karim Kaabeche, Cécilie Dufour, Hichem Miraoui, Pierre J Marie

Journal: Am. J. Pathol.. 2006 Oct;169(4):1303-11.

 

Genetic mutations of Twist, a basic helix-loop-helix transcription factor, induce premature fusion of cranial sutures in Saethre-Chotzen syndrome (SCS). We report here a previously undescribed mechanism involved in the altered osteoblastogenesis in SCS. Cranial osteoblasts from an ...

Last Updated: 27 Sep 2006

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Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.
 

Author(s): Wolfram Kress, Christian Schropp, Gabriele Lieb, Birgit Petersen, Maria Büsse-Ratzka, Jürgen Kunz, Edeltraut Reinhart, Wolf-Dieter Schäfer, Johanna Sold, Florian Hoppe, Jan Pahnke, Andreas Trusen, Niels Sörensen, Jürgen Krauss, Hartmut Collmann

Journal: Eur. J. Hum. Genet.. 2006 Jan;14(1):39-48.

 

The Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostosis syndrome with uni- or bilateral coronal synostosis and mild limb deformities. It is caused by loss-of-function mutations of the TWIST 1 gene. In an attempt to delineate functional features separating SCS ...

Last Updated: 16 Dec 2005

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A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome.
 

Author(s): Hind Guenou, Karim Kaabeche, Sandrine Le Mée, Pierre J Marie

Journal: Hum. Mol. Genet.. 2005 Jun;14(11):1429-39.

 

Genetic mutations of Twist, a bHLH transcription factor, induce premature fusion of cranial sutures (craniosynostosis) in the Saethre-Chotzen syndrome (SCS). The mechanisms by which Twist haploinsufficiency may alter osteoblast differentiation are poorly understood. In this study, ...

Last Updated: 20 May 2005

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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 "Saethre-Chotzen syndrome" returned 3 free, full-text review articles on human participants. First 3 results:

Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.
 

Author(s): Roger H Woods, Ehtesham Ul-Haq, Andrew O M Wilkie, Jayaratnam Jayamohan, Peter G Richards, David Johnson, Tracy Lester, Steven A Wall

Journal: Plast. Reconstr. Surg.. 2009 Jun;123(6):1801-10.

 

Saethre-Chotzen syndrome is a syndromic craniosynostosis defined by a genetic mutation affecting the TWIST1 gene on chromosome 7p21. It is typically associated with unicoronal or bicoronal synostosis, eyelid ptosis, dysmorphic external ears, and other variable facial and limb abnormalities. ...

Last Updated: 1 Jun 2009

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A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome.
 

Author(s): E H Zackai, C A Stolle

Journal: Am. J. Hum. Genet.. 1998 Nov;63(5):1277-81.

 

Last Updated: 23 Dec 1998

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Saethre-Chotzen syndrome.
 

Author(s): W Reardon, R M Winter

Journal: J. Med. Genet.. 1994 May;31(5):393-6.

 

Last Updated: 22 Sep 1994

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.