Craniosynostosis is a birth defect of the brain characterized by the premature closure of one or more of the fibrous joints between the bones of the skull (called the cranial sutures) before brain growth is complete. Closure of a single suture is most common. In contrast to normal skull growth, in which the skull expands uniformly to accommodate the growth of the brain, premature closure of a single suture restricts the growth in that part of the skull and promotes growth in other parts of the skull where sutures remain open. This results in an abnormal shape of the skull, but does not prevent the brain from expanding to a normal volume. However, when many sutures close prematurely, the skull cannot expand to accommodate the growing brain, which leads to increased pressure within the skull and impaired development of the brain. Craniosynostosis can be gene-linked, or caused by metabolic diseases, such as rickets or an overactive thyroid. Some cases are associated with other disorders such as microcephaly (abnormally small head) and hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). The first sign of craniosynostosis is an abnormally shaped skull. Other features can include signs of increased intracranial pressure, developmental delays, or mental retardation, which are caused by constriction of the growing brain. Seizures and blindness may also occur.
Treatment for craniosynostosis generally consists of surgery to improve the symmetry and appearance of the head and to relieve
pressure on the brain and the cranial nerves. For some children with less severe problems, cranial molds can reshape the skull
to accommodate brain growth and improve the appearance of the head.
The prognosis for craniosynostosis varies depending on whether single or multiple cranial sutures are involved or other abnormalities
are present. The prognosis is better for those with single suture involvement and no associated abnormalities.
The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of early neurological development.
The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry
and offers hope for new ways to treat and prevent brain birth defects, including craniosynostosis.
March of Dimes Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 askus@marchofdimes.com http://www.marchofdimes.com Tel: 914-428-7100 888-MODIMES (663-4637) Fax: 914-428-8203 |
Children's Craniofacial Association 13140 Coit Road Suite 307 Dallas, TX 75240 http://www.ccakids.com Tel: 800-535-3643 214-570-9099 Fax: 214-570-8811 |
The Arc of the United States 1010 Wayne Avenue Suite 650 Silver Spring, MD 20910 Info@thearc.org http://www.thearc.org Tel: 301-565-3842 Fax: 301-565-3843 or -5342 |
National Organization for Rare Disorders (NORD) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT 06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291 |
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Last updated September 16, 2008