Rare Pediatrics News

Disease Profile

Craniosynostosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

US Estimated

Europe Estimated

Age of onset

Infancy

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ICD-10

Q75.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Craniostenosis; CSO

Categories

Congenital and Genetic Diseases

Summary

Craniosynostosis is the premature closure of one or more of the joints that connect the bones of a baby's skull (cranial sutures). Normally, the bones remain separate until about age 2, while the brain is growing. They then fuse together and stay connected throughout life. The closure is premature when it occurs before brain growth is complete.[1][2][3]

Symptoms and severity vary depending on how many sutures close prematurely. For example, if only one closes prematurely (which is most common), brain growth may continue in other parts of the skull, leading only to an abnormally-shaped skull and no other health problems or complications. If multiple sutures close prematurely, brain growth can be restricted. This can lead to increased pressure in the skull, impaired brain development, seizures, blindness, and/or intellectual disability.[1][3]

Craniosynostosis may occur as a single abnormality (isolated craniosynostosis) or it may occur as one feature of one of many syndromes. Most cases of isolated craniosynostosis occur randomly (sporadically) and have no known cause. In some cases, isolated craniosynostosis is due to a mutation in any of several genes, with autosomal dominant inheritance. When craniosynostosis is a feature of a larger syndrome (syndromic craniosynostosis), the cause and inheritance pattern depend on the syndrome the person has. However, most syndromic causes of craniosynostosis are autosomal dominant. Craniosynostosis can also be associated with a metabolic disease such as rickets, or hyperthyroidism.[1][3]

Treatment for craniosynostosis depends on the severity in each child and may involve surgery in infancy to relieve pressure within the skull, allow for brain growth, and improve the appearance of the shape of the head.[1][4] However, not all children with craniosynostosis will need surgery.[3] The long-term outlook depends on how many sutures are involved and whether the child has a larger syndrome or other health problems.[1][4] Children who have surgery and are otherwise healthy generally do not experience long-term complications, especially when only one suture is involved.[1][4][5]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Craniosynostosis
0001363
Oxycephaly
0000263
Scaphocephaly
0030799
Turricephaly
Tall shaped skull
Tower skull shape

[ more ]

 0000262
Do you have updated information on this disease? We want to hear from you.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    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

      • 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. 
      • 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.

        References

        1. Craniosynostosis Information Page. National Institute of Neurological Disorders and Stroke (NINDS). May 25, 2017; https://www.ninds.nih.gov/Disorders/All-Disorders/Craniosynostosis-Information-Page.
        2. Craniosynostosis. Mayo Clinic. August 4, 2017; https://www.mayoclinic.org/diseases-conditions/craniosynostosis/symptoms-causes/syc-20354513.
        3. Primary Craniosynostosis. National Organization for Rare Disorders (NORD). 2017; https://rarediseases.org/rare-diseases/primary-craniosynostosis/.
        4. Craniosynostosis. MedlinePlus. November 3, 2015; https://medlineplus.gov/ency/article/001590.htm.
        5. Sheth RD. Pediatric Craniosynostosis. Medscape Reference. October 26, 2017; https://emedicine.medscape.com/article/1175957-overview.
        6. Buchanan EP, Hollier, Jr. LH. Overview of craniosynostosis. UpToDate. Waltham, MA: UpToDate; April 11, 2017; https://www.uptodate.com/contents/overview-of-craniosynostosis.
        7. O'Neill MJF. CRANIOSYNOSTOSIS 1; CRS1. OMIM. July 24, 2013; https://www.omim.org/entry/123100.
        8. Buchanan EP, Xue Y, Xue AS, Olshinka A, Lam S. Multidisciplinary care of craniosynostosis. Journal of Multidisciplinary Healthcare. July 6, 2017; 2017(10):263—270. https://www.dovepress.com/multidisciplinary-care-of-craniosynostosis-peer-reviewed-fulltext-article-JMDH.
        9. Hollier LH. Craniosynostosis syndromes. UpToDate. Waltham, MA: UpToDate; October 13, 2017; https://www.uptodate.com/contents/craniosynostosis-syndromes.

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