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

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
 

Author(s): Tobias Schwerd, Stephen R F Twigg, Dominik Aschenbrenner, Santiago Manrique, Kerry A Miller, Indira B Taylor, Melania Capitani, Simon J McGowan, Elizabeth Sweeney, Astrid Weber, Liye Chen, Paul Bowness, Andrew Riordan, Andrew Cant, Alexandra F Freeman, Joshua D Milner, Steven M Holland, Natalie Frede, Miryam Müller, Dirk Schmidt-Arras, Bodo Grimbacher, Steven A Wall, E Yvonne Jones, Andrew O M Wilkie, Holm H Uhlig

Journal: J. Exp. Med.. 2017 Sep;214(9):2547-2562.

 

Multiple cytokines, including interleukin 6 (IL-6), IL-11, IL-27, oncostatin M (OSM), and leukemia inhibitory factor (LIF), signal via the common GP130 cytokine receptor subunit. In this study, we describe a patient with a homozygous mutation of IL6ST (encoding GP130 p.N404Y) who ...

Last Updated: 27 Jul 2017

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Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report.
 

Author(s): Ali Al Kaissi, Zahra Marrakchi, Nabil M Nassib, Jochen Hofstaetter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher

Journal: Medicine (Baltimore). 2017 Mar;96(12):e6199.

 

Craniosynostosis is a disorder characterized by premature fusion of cranial sutures with subsequent development of abnormal craniofacial contour associated with variable skeletal and extra-skeletal abnormalities. In this family syndromic type of craniosynostosis was recognized and ...

Last Updated: 22 Mar 2017

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Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.
 

Author(s): Andrew T Timberlake, Jungmin Choi, Samir Zaidi, Qiongshi Lu, Carol Nelson-Williams, Eric D Brooks, Kaya Bilguvar, Irina Tikhonova, Shrikant Mane, Jenny F Yang, Rajendra Sawh-Martinez, Sarah Persing, Elizabeth G Zellner, Erin Loring, Carolyn Chuang, Amy Galm, Peter W Hashim, Derek M Steinbacher, Michael L DiLuna, Charles C Duncan, Kevin A Pelphrey, Hongyu Zhao, John A Persing, Richard P Lifton

Journal:

 

Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes. To identify mutations contributing to common non-syndromic midline (sagittal and metopic) craniosynostosis, we performed ...

Last Updated: 30 Sep 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 17 free, full-text review articles on human participants. First 3 results:

Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography.
 

Author(s): Talita Micheletti Helfer, Alberto Borges Peixoto, Gabriele Tonni, Edward Araujo Júnior

Journal: Med Ultrason. 2016 Sep;18(3):378-85.

 

Craniosynostosis is defined as the process of premature fusion of one or more of the cranial sutures. It is a common condition that occurs in about 1 to 2,000 live births. Craniosynostosis may be classified in primary or secondary. It is also classified as nonsyndromic or syndromic. ...

Last Updated: 14 Sep 2016

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Understanding craniosynostosis as a growth disorder.
 

Author(s): Kevin Flaherty, Nandini Singh, Joan T Richtsmeier

Journal: Wiley Interdiscip Rev Dev Biol. 2016 Jul;5(4):429-59.

 

Craniosynostosis is a condition of complex etiology that always involves the premature fusion of one or multiple cranial sutures and includes various anomalies of the soft and hard tissues of the head. Steady progress in the field has resulted in identifying gene mutations that recurrently ...

Last Updated: 16 Jun 2016

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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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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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