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

Locally affine diffeomorphic surface registration for planning of metopic craniosynostosis surgery.
 

Author(s): Antonio R Porras, Beatriz Paniagua, Andinet Enquobahrie, Scott Ensel, Hina Shah, Robert Keating, Gary F Rogers, Marius George Linguraru

Journal: Med Image Comput Comput Assist Interv. 2017 Sep;10434():479-487.

 

The outcome of cranial vault reconstruction for the surgical treatment of craniosynostosis heavily depends on the surgeon's expertise because of the lack of an objective target shape. We introduce a surface-based diffeomorphic registration framework to create the optimal post-surgical ...

Last Updated: 31 Dec 1969

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Novel chromosomal microduplications associated with dolichocephaly craniosynostosis: A case report.
 

Author(s): Dongyi Yu, Shuo Li, Qi Liu, Kai Zhang

Journal: Medicine (Baltimore). 2017 Dec;96(49):e8729.

 

Craniosynostosis is a human disorder characterized by the premature fusing of the cranial sutures in infants. Point mutations in hotspot genes such as FGFRs are the well-recognized causes of syndromic craniosynostosis, but chromosomal abbreviations may also play an important role ...

Last Updated: 31 Dec 1969

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Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system.
 

Author(s): Luciana Paula Maximino, Luis Gustavo Ducati, Dagma Venturini Marques Abramides, Camila de Castro Corrêa, Patrícia Fernandes Garcia, Adriano Yacubian Fernandes

Journal: Arq Neuropsiquiatr. 2017 Dec;75(12):862-868.

 

To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities.

Last Updated: 31 Dec 1969

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

Fibroblast Growth Factor Receptor 2 () Mutation Related Syndromic Craniosynostosis.
 

Author(s): Saïd C Azoury, Sashank Reddy, Vivek Shukla, Chu-Xia Deng

Journal:

 

Craniosynostosis results from the premature fusion of cranial sutures, with an incidence of 1 in 2,100-2,500 live births. The majority of cases are non-syndromic and involve single suture fusion, whereas syndromic cases often involve complex multiple suture fusion. The fibroblast ...

Last Updated: 31 Dec 1969

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Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.
 

Author(s): Paolo Prontera, Daniela Rogaia, Amedea Mencarelli, Valentina Ottaviani, Ester Sallicandro, Giorgio Guercini, Susanna Esposito, Anna Bersano, Giuseppe Merla, Gabriela Stangoni

Journal:

 

Moyamoya angiopathy (MA) is a rare cerebrovascular disorder characterised by the progressive occlusion of the internal carotid artery. Its aetiology is uncertain, but a genetic background seems likely, given the high MA familial rate. To investigate the aetiology of craniosynostosis ...

Last Updated: 31 Dec 1969

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Clinical genetics of craniosynostosis.
 

Author(s): Andrew O M Wilkie, David Johnson, Steven A Wall

Journal: Curr. Opin. Pediatr.. 2017 12;29(6):622-628.

 

When providing accurate clinical diagnosis and genetic counseling in craniosynostosis, the challenge is heightened by knowledge that etiology in any individual case may be entirely genetic, entirely environmental, or anything in between. This review will scope out how recent genetic ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 18 Jan 2018

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Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
 

Status: Recruiting

Condition Summary: Craniosynostosis; Muenke Syndrome

 

Last Updated: 8 Aug 2018

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