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

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

Go To URL
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

Go To URL
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
 

Author(s): Nadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia, Esra Kilic, Anna F Hennig, Nicolai Adolphs, Namrata Saha, Beatrix Fauler, Vera M Kalscheuer, Friederike Hennig, Janine Altmüller, Christian Netzer, Holger Thiele, Peter Nürnberg, Gökhan Yigit, Marten Jäger, Jochen Hecht, Ulrike Krüger, Thorsten Mielke, Peter M Krawitz, Denise Horn, Markus Schuelke, Stefan Mundlos, Carlos A Bacino, Penelope E Bonnen, Bernd Wollnik, Björn Fischer-Zirnsak, Uwe Kornak

Journal: Am. J. Hum. Genet.. 2017 Nov;101(5):833-843.

 

Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges. Variable lipoatrophy and cutis laxa are the basis for a ...

Last Updated: 31 Dec 1969

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

Review of Past Reports and Current Concepts of Surgical Management for Craniosynostosis.
 

Author(s): Shigeo Kyutoku, Takayuki Inagaki

Journal: Neurol. Med. Chir. (Tokyo). 2017 May;57(5):217-224.

 

The purposes of surgery for craniosynostosis are to release increased intracranial pressure and to normalize cranial shape. The procedure was developed from a simple strip craniectomy in practice which ranged from the removal of the fused suture before the 1960s to total calvarial ...

Last Updated: 31 Dec 1969

Go To URL
Genetic advances in craniosynostosis.
 

Author(s): Wanda Lattanzi, Marta Barba, Lorena Di Pietro, Simeon A Boyadjiev

Journal: Am. J. Med. Genet. A. 2017 May;173(5):1406-1429.

 

Craniosynostosis, the premature ossification of one or more skull sutures, is a clinically and genetically heterogeneous congenital anomaly affecting approximately one in 2,500 live births. In most cases, it occurs as an isolated congenital anomaly, that is, nonsyndromic craniosynostosis ...

Last Updated: 31 Dec 1969

Go To URL
[Treatment of syringomyelia in patients with Chiari malformation and craniosynostosis. A case report and review of the literature].
 

Author(s): A Aransay-Garcia, F J Villarejo-Ortega

Journal: Rev Neurol. 2016 Nov;63(10):455-459.

 

Patients with multisutural or single craniosynostosis, often suffer from Chiari malformation and syringomyelia. The surgical management of syringomyelia in these patients is controversial.

Last Updated: 31 Dec 1969

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 18 Jan 2018

Go to URL
Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
 

Status: Recruiting

Condition Summary: Craniosynostosis; Muenke Syndrome

 

Last Updated: 22 May 2018

Go to URL