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Diseases

Genetic and Rare Diseases Information Center (GARD)

Craniosynostosis


Other Names for this Disease
  • Craniostenosis
  • CSO
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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

References

  1. NINDS Craniosynostosis Information Page. NINDS. October 26, 2010; http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm. Accessed 3/31/2011.
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Basic Information

  • 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.
Other Names for this Disease
  • Craniostenosis
  • CSO
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.