Craniosynostosis

Title

Other Names:

Craniostenosis; CSO

Categories:

Congenital and Genetic Diseases

Summary Summary

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.^[1] 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.^[1]

Last updated: 3/31/2011

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of the vertebrae	90%
Underdeveloped supraorbital ridges	90%
Frontal bossing	50%
Myopia	50%
Seizures	7.5%
Triphalangeal thumb	7.5%
Autosomal dominant inheritance	-
Carpal bone malsegmentation	-
Cone-shaped epiphyses of the phalanges of the hand	-
Cone-shaped epiphyses of the toes	-
Craniosynostosis	-
Dolichocephaly	-
Hallux valgus	-
Oxycephaly	-
Shortening of all distal phalanges of the fingers	-
Shortening of all middle phalanges of the fingers	-
Turricephaly	-

Last updated: 9/1/2016

Inheritance Inheritance

Craniosynostosis is most often sporadic (occurs by chance).^[2] Most often it occurs as an isolated (non-syndromic) condition that has the characteristics of a multifactorial trait (a feature likely caused by the interaction of several genes with environmental factors, most of which are unknown).^[3] However, in some families, craniosynostosis may be inherited in one of two ways:

autosomal recessive - Autosomal recessive means that two copies of the gene are necessary to express the condition, one inherited from each parent, who are carriers. Carrier parents have a one in four, or 25 percent, chance with each pregnancy, to have a child with craniosynostosis. Males and females are equally affected.
autosomal dominant - Autosomal dominant means that one gene is necessary to express the condition, and the gene is passed from parent to child with a 50/50 risk for each pregnancy. Males and females are equally affected.^[2]

Craniosynostosis can also be a feature of many different genetic syndromes that have a variety of inheritance patterns and chances for reoccurrence, depending on the specific syndrome present.^[2] Syndromic craniosynostosis is present in about 15% of individuals with the condition.^[4] It is important for the child as well as family members to be examined carefully for signs of a syndromic cause (inherited genetic disorder) of craniosynostosis such as limb defects, ear abnormalities, or cardiovascular malformations.^[2] Some of the more common genetic syndromes associated with craniosynostosis include Crouzon syndrome, Apert syndrome, Pfeiffer syndrome and Saethre-Chotzen syndrome.^[5]

Last updated: 6/6/2011

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
ClinicalTrials.gov lists trials that are studying or have studied Craniosynostosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.

Organizations Supporting this Disease

Children's Craniofacial Association
13140 Coit Road Suite 517
Dallas, TX 75240
Toll-free: 800-535-3643
Telephone: 214-570-9099
Fax: 214-570-8811
E-mail: contactCCA@ccakids.com
Website: http://www.ccakids.com/
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: faces@faces-cranio.org
Website: http://www.faces-cranio.org/
World Craniofacial Foundation
P.O. Box 515838
Dallas, TX 75251-5838
Toll-free: 800-533-3315
Telephone: 972-566-6669
Fax: 972-566-3850
E-mail: info@worldcf.org
Website: http://www.worldcf.org/

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

The International Society for Pediatric Neurosurgery offers a free detailed resource guide titled Nonsyndromic Craniosynostosis in Children.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
OMIM
The Online Mendelian Inheritance in Man (OMIM)
http://www.ncbi.nlm.nih.gov/omim/123100
http://www.ncbi.nlm.nih.gov/omim/604757
http://www.ncbi.nlm.nih.gov/omim/600593
http://www.ncbi.nlm.nih.gov/omim/601222
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Craniosynostosis. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I had craniosynostosis and now my daughter has this disorder. I'd like to know more about the genetics involved with this condition. See answer

References References

NINDS Craniosynostosis Information Page. NINDS. October 26, 2010; http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm. Accessed 3/31/2011.
Craniosynostosis. Children's Hospital of Wisconsin. 2011; http://www.chw.org/display/router.asp?DocID=22502. Accessed 3/31/2011.
Boyadjiev SA; International Craniosynostosis Consortium. Genetic analysis of non-syndromic craniosynostosis. Orthodontics and Craniofacial Research. August 2007; 10(3):129-137. http://www.ncbi.nlm.nih.gov/pubmed/17651129. Accessed 3/31/2011.
Melville H, Wang Y, Taub PJ, Jabs EW. Genetic basis of potential therapeutic strategies for craniosynostosis. American Journal of Medical Genetics. December 2010; 152A(12):3007-3015. http://www.ncbi.nlm.nih.gov/pubmed/21082653. Accessed 3/31/2011.
Andrew O. M. Wilkie. Craniosynostosis: genes and mechanisms. Human Molecular Genetics. 1997; 6(10):1647-1656. http://hmg.oxfordjournals.org/content/6/10/1647.full.pdf+html. Accessed 3/31/2011.