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

View Details
Logo
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

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.

Last Updated: 7 Jul 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details
Logo
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

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 Jul 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 159 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

Go To URL
Pancraniosynostosis following endoscopic-assisted strip craniectomy for sagittal suture craniosynostosis in the setting of poor compliance with follow-up: a case report.
 

Author(s): Walavan Sivakumar, Isak Goodwin, Ross Blagg, Dana Johns, Jay Riva-Cambrin, Faizi Siddiqi, Barbu Gociman

Journal:

 

There is limited craniofacial literature on the complications of helmet therapy and controversy regarding the effects of inadequate orthotic helmet therapy. The authors present a case of inadvertently prolonged orthotic helmet therapy after endoscopic strip craniectomy for isolated ...

Last Updated: 18 Apr 2015

Go To URL
Intellectual and academic functioning of school-age children with single-suture craniosynostosis.
 

Author(s): Matthew L Speltz, Brent R Collett, Erin R Wallace, Jacqueline R Starr, Mary Michaeleen Cradock, Lauren Buono, Michael Cunningham, Kathleen Kapp-Simon

Journal: Pediatrics. 2015 Mar;135(3):e615-23.

 

We compared the developmental status of school-age children with single-suture craniosynostosis (case group) and unaffected children (control group). Within the case group we compared the performance of children distinguished by location of suture fusion (sagittal, metopic, unicoronal, lambdoid).

Last Updated: 3 Mar 2015

Go To URL

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:

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

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

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

 
 
Top

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: 19 May 2016

Go to URL
Osteogenic Profiling of Tissue From Children With Craniosynostosis
 

Status: Recruiting

Condition Summary: Craniosynostosis

 

Last Updated: 28 Jul 2015

Go to URL
The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery
 

Status: Recruiting

Condition Summary: Craniosynostosis

 

Last Updated: 2 Feb 2015

Go to URL