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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How do you compare to others with this condition?

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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 151 free, full-text research articles on human participants. First 3 results:

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.
 

Author(s): Stephen R F Twigg, Jennifer Forecki, Jacqueline A C Goos, Ivy C A Richardson, A Jeannette M Hoogeboom, Ans M W van den Ouweland, Sigrid M A Swagemakers, Maarten H Lequin, Daniel Van Antwerp, Simon J McGowan, Isabelle Westbury, Kerry A Miller, Steven A Wall, , Peter J van der Spek, Irene M J Mathijssen, Erwin Pauws, Christa S Merzdorf, Andrew O M Wilkie

Journal: Am. J. Hum. Genet.. 2015 Sep;97(3):378-88.

 

Human ZIC1 (zinc finger protein of cerebellum 1), one of five homologs of the Drosophila pair-rule gene odd-paired, encodes a transcription factor previously implicated in vertebrate brain development. Heterozygous deletions of ZIC1 and its nearby paralog ZIC4 on chromosome 3q25.1 ...

Last Updated: 5 Sep 2015

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Papilledema from craniosynostosis in pycnodysostosis.
 

Author(s): Sung-eun E Kyung, Jonathan C Horton

Journal: Pediatr. Neurol.. 2015 Jan;52(1):128-9.

 

Last Updated: 23 Dec 2014

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Evo-Devo insights from pathological networks: exploring craniosynostosis as a developmental mechanism for modularity and complexity in the human skull.
 

Author(s): Borja Esteve-Altava, Diego Rasskin-Gutman

Journal: J Anthropol Sci. 2015 Jul;93():103-17.

 

Bone fusion has occurred repeatedly during skull evolution in all tetrapod lineages, leading to a reduction in the number of bones and an increase in their morphological complexity. The ontogeny of the human skull includes also bone fusions as part of its normal developmental process. ...

Last Updated: 22 Jul 2015

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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 12 free, full-text review articles on human participants. First 3 results:

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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Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.
 

Author(s): Nneamaka B Agochukwu, Benjamin D Solomon, Andrea L Gropman, Maximilian Muenke

Journal: Pediatr. Neurol.. 2012 Nov;47(5):355-61.

 

Epilepsy, a neurologic disorder characterized by the predisposition to recurrent unprovoked seizures, is reported in more than 300 genetic syndromes. Muenke syndrome is an autosomal-dominant craniosynostosis syndrome characterized by unilateral or bilateral coronal craniosynostosis, ...

Last Updated: 9 Oct 2012

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Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis).
 

Author(s): Nneamaka Barbara Agochukwu, Benjamin D Solomon, Emily S Doherty, Maximilian Muenke

Journal: J Craniofac Surg. 2012 May;23(3):664-8.

 

Although Muenke syndrome is the most common syndromic form of craniosynostosis, the frequency of oral and palatal anomalies including high-arched palate, cleft lip with or without cleft palate has not been documented in a patient series of Muenke syndrome to date. Further, to our ...

Last Updated: 28 May 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
 

Status: Recruiting

Condition Summary: Craniosynostosis; Muenke Syndrome

 

Last Updated: 17 Jun 2015

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Osteogenic Profiling of Tissue From Children With Craniosynostosis
 

Status: Recruiting

Condition Summary: Craniosynostosis

 

Last Updated: 28 Jul 2015

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The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery
 

Status: Recruiting

Condition Summary: Craniosynostosis

 

Last Updated: 2 Feb 2015

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