Apert Syndrome

Common Name(s)

Apert Syndrome, Acrocephalosyndactyly, Type 1

Apert syndrome is a disorder mainly characterized by craniosynostosis (premature fusion of skull bones, causing abnormalities in the shape of the head and face) and syndactyly (fusion or webbing or fingers and/or toes). Other signs and symptoms may include distinctive facial features (bulging and wide-set eyes; a beaked nose; an underdeveloped upper jaw leading to crowded teeth and other dental problems; and shallow eye sockets which can cause vision problems); polydactyly; hearing loss; hyperhidrosis (increased sweating); and other symptoms. Cognitive abilities in affected individuals range from normal to mild or moderate intellectual disability. It is caused by mutations in the FGFR2 gene and is inherited in an autosomal dominant manner. Management typically includes various surgical procedures that are tailored to the affected individual's needs.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Apert Syndrome" for support, advocacy or research.

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Apert Syndrome Pen Pals

To provide guidance and support for individuals with Apert Syndrome.

Last Updated: 10 Dec 2012

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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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World Craniofacial Foundation

The mission of the World Craniofacial Foundation is to provide help, hope, and healing for children with craniofacial abnormalities and their families.

http://www.worldcf.org

Last Updated: 7 Nov 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Apert Syndrome" for support, advocacy or research.

Logo
Apert Syndrome Pen Pals

To provide guidance and support for individuals with Apert Syndrome.

Last Updated: 10 Dec 2012

View Details
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
Logo
World Craniofacial Foundation

The mission of the World Craniofacial Foundation is to provide help, hope, and healing for children with craniofacial abnormalities and their families.

http://www.worldcf.org

Last Updated: 7 Nov 2013

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 "Apert Syndrome" returned 41 free, full-text research articles on human participants. First 3 results:

Apert syndrome and sleep apnea.
 

Author(s): Pedro Landete, Patricia Pérez-Ferrer, Eusebi Chiner

Journal: Arch. Bronconeumol.. 2013 Aug;49(8):364-5.

 

Last Updated: 5 Aug 2013

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Orthodontic treatment in combination with Le Fort II bone distraction in patient with Apert syndrome.
 

Author(s): Haruyo Miyazaki, Hidenori Katada, Yoshimi Ichinokawa, Shinichi Hirabayashi, Kenji Sueishi

Journal: Bull. Tokyo Dent. Coll.. 2013 ;54(1):9-17.

 

We report a case of an 11-year-old girl presenting with Apert syndrome characterized by midface concavity, protrusion of the eyeballs, and ocular hypertelorism. She had class III anterior crossbite, narrow upper and lower arches, and marked crowding. Based on cephalometric analysis, ...

Last Updated: 25 Apr 2013

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Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.
 

Author(s): Erika Yeh, Roberto D Fanganiello, Daniele Y Sunaga, Xueyan Zhou, Gregory Holmes, Katia M Rocha, Nivaldo Alonso, Hamilton Matushita, Yingli Wang, Ethylin W Jabs, Maria Rita Passos-Bueno

Journal:

 

Apert syndrome (AS), the most severe form craniosynostosis, is characterized by premature fusion of coronal sutures. Approximately 70% of AS patients carry S252W gain-of-function mutation in FGFR2. Besides the cranial phenotype, brain dysmorphologies are present and are not seen in ...

Last Updated: 17 Apr 2013

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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 "Apert Syndrome" returned 4 free, full-text review articles on human participants. First 3 results:

[Apert syndrome].
 

Author(s): Sarra Benmiloud, Sana Chaouki, Samir Atmani, Moustapha Hida

Journal: Pan Afr Med J. 2013 ;14():66.

 

Last Updated: 8 Apr 2013

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[Autopsy of a fetus with Apert syndrome and review of the literature].
 

Author(s): Jie Zhou, Yong-jian Deng, Xue-qin Sima

Journal: Nan Fang Yi Ke Da Xue Xue Bao. 2011 Mar;31(3):557-8.

 

Last Updated: 21 Feb 2013

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Oral manifestations in Apert syndrome: case presentation and a brief review of the literature.
 

Author(s): Andrada Soancă, Diana Dudea, H Gocan, Alexandra Roman, B Culic

Journal: Rom J Morphol Embryol. 2010 ;51(3):581-4.

 

The present paper describes the oral manifestations in a 16-year-old boy previously diagnosed with Apert syndrome.

Last Updated: 2 Sep 2010

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.