Craniosynostosis

Common Name(s)

Craniosynostosis

Craniosynostosis is a birth defect of the brain characterized by the premature closure of one or more of the joints between the bones of the skull (called the cranial sutures) before brain growth is complete. The first sign is an abnormally shaped skull; other features can include signs of increased intracranial pressure, developmental delays, intellectual disability, seizures, and blindness, caused by constriction of the growing brain. Closure of a single suture is most common and does not prevent the brain from expanding to a normal volume. When many sutures close prematurely, the skull cannot expand to accommodate the growing brain, leading to increased pressure and impaired development of the brain. Craniosynostosis can be caused by genetic mutations, certain metabolic diseases (such as rickets or an overactive thyroid) or can be associated with other disorders such as microcephaly and hydrocephalus. Treatment generally consists of surgery to improve the symmetry and appearance of the head and to relieve pressure on the brain and the cranial nerves.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Craniosynostosis" 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.

Last Updated: 19 Nov 2014

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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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.

Last Updated: 7 Jul 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Craniosynostosis" 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.

http://www.cappskids.org/

Last Updated: 19 Nov 2014

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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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 Jul 2015

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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 "Craniosynostosis" returned 168 free, full-text research articles on human participants. First 3 results:

Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.
 

Author(s): Xiaoqian Ye, Audrey Guilmatre, Boris Reva, Inga Peter, Yann Heuzé, Joan T Richtsmeier, Deborah J Fox, Rhinda J Goedken, Ethylin Wang Jabs, Paul A Romitti

Journal: Plast. Reconstr. Surg.. 2016 Mar;137(3):952-61.

 

Craniosynostosis is a condition that includes the premature fusion of one or multiple cranial sutures. Among various craniosynostosis forms, sagittal nonsyndromic craniosynostosis is the most prevalent. Although different gene mutations have been identified in some craniosynostosis ...

Last Updated: 25 Feb 2016

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Cranial Ultrasound as a First-Line Imaging Examination for Craniosynostosis.
 

Author(s): Katya Rozovsky, Kristin Udjus, Nagwa Wilson, Nicholas James Barrowman, Natalia Simanovsky, Elka Miller

Journal: Pediatrics. 2016 Feb;137(2):e20152230.

 

Radiography, typically the first-line imaging study for diagnosis of craniosynostosis, exposes infants to ionizing radiation. We aimed to compare the accuracy of cranial ultrasound (CUS) with radiography for the diagnosis or exclusion of craniosynostosis.

Last Updated: 24 Feb 2016

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Activation of the IGF1 pathway mediates changes in cellular contractility and motility in single-suture craniosynostosis.
 

Author(s): Zeinab Al-Rekabi, Marsha M Wheeler, Andrea Leonard, Adriane M Fura, Ilsa Juhlin, Christopher Frazar, Joshua D Smith, Sarah S Park, Jennifer A Gustafson, Christine M Clarke, Michael L Cunningham, Nathan J Sniadecki

Journal: J. Cell. Sci.. 2016 Feb;129(3):483-91.

 

Insulin growth factor 1 (IGF1) is a major anabolic signal that is essential during skeletal development, cellular adhesion and migration. Recent transcriptomic studies have shown that there is an upregulation in IGF1 expression in calvarial osteoblasts derived from patients with single-suture ...

Last Updated: 2 Feb 2016

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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 "Craniosynostosis" returned 13 free, full-text review articles on human participants. First 3 results:

Prenatal Diagnosis of Nasal Glioma Associated with Metopic Craniosynostosis: Case Report and Review of the Literature.
 

Author(s): Andrew C Boyer, Anant Krishnan, Luis F Goncalves, Lindsay Williams, Kongkrit Chaiyasate

Journal:

 

Nasal gliomas (nasal glial heterotopia) are rare benign congenital frontonasal lesions occurring in approximately 1:20.000-40,000 live births. The diagnosis is rarely reported prenatally. Nasal gliomas are typically isolated lesions, with syndromic association being exceedingly rare. ...

Last Updated: 1 Dec 2015

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A Genetic-Pathophysiological Framework for Craniosynostosis.
 

Author(s): Stephen R F Twigg, Andrew O M Wilkie

Journal: Am. J. Hum. Genet.. 2015 Sep;97(3):359-77.

 

Craniosynostosis, the premature fusion of one or more cranial sutures of the skull, provides a paradigm for investigating the interplay of genetic and environmental factors leading to malformation. Over the past 20 years molecular genetic techniques have provided a new approach to ...

Last Updated: 5 Sep 2015

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Craniosynostosis: molecular pathways and future pharmacologic therapy.
 

Author(s): Kshemendra Senarath-Yapa, Michael T Chung, Adrian McArdle, Victor W Wong, Natalina Quarto, Michael T Longaker, Derrick C Wan

Journal: Organogenesis. ;8(4):103-13.

 

Craniosynostosis describes the premature fusion of one or more cranial sutures and can lead to dramatic manifestations in terms of appearance and functional impairment. Contemporary approaches for this condition are primarily surgical and are associated with considerable morbidity ...

Last Updated: 29 Aug 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Osteogenic Profiling of Tissue From Children With Craniosynostosis
 

Status: Recruiting

Condition Summary: Craniosynostosis

 

Last Updated: 25 Jul 2016

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Last Updated: 17 Jan 2017

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The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery
 

Status: Recruiting

Condition Summary: Craniosynostosis

 

Last Updated: 25 Jul 2016

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