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Diseases & Conditions

Cephalic Disorders

(Also Called 'Colpocephaly', 'Schizencephaly')

What are Cephalic Disorders?

Cephalic disorders are congenital conditions that stem from damage to or abnormal development of the budding nervous system. Most cephalic disorders are caused by a disturbance that occurs very early in the development of the fetal nervous system. Damage to the developing nervous system is a major cause of chronic, disabling disorders, and sometimes death in infants, children, and even adults. Cephalic disorders may be influenced by hereditary or genetic conditions or by environmental exposures during pregnancy (e.g., medication taken by the mother, maternal infection, exposure to radiation). Some cephalic disorders occur when the cranial sutures (the fibrous joints that connect the bones of the skull) join prematurely. Understanding the normal development of the human nervous system may lead to a better understanding of cephalic disorders.

Is there any treatment?

Treatments for cephalic disorders depend upon the particular type of disorder. For most cephalic disorders, treatment is only symptomatic and supportive. In some cases, anticonvulsant medications shunts, or physical therapy are appropriate.

What is the prognosis?

The degree to which damage to the developing nervous system harms the mind and body varies enormously. Many disabilities are mild enough to allow those afflicted to eventually function independently in society. Others are not. Some infants, children, and adults die; others remain totally disabled; and an even larger population is partially disabled, functioning well below normal capacity.

What research is being done?

Scientists are rapidly learning how harmful insults, a critical nutritional deficiency, or exposure to an environmental insult at various stages of pregnancy can lead to developmental disorders. Research projects currently underway include a study to evaluate increased risk of neural tube defects and various other congenital malformations in association with environmental and occupational exposure to pesticides. Scientists are also concentrating their efforts on understanding the complex processes responsible for normal early development of the brain and nervous system and how the disruption of any of these processes results in congenital anomalies such as cephalic disorders. Currently, researchers are examining the mechanisms involved in neurulation -- the process of forming the neural tube. Investigators are also conducting a variety of genetic studies. Understanding how genes control brain cell migration, proliferation, differentiation, and death, and how radiation, drugs, toxins, infections, and other factors disrupt these processes will aid in preventing many congenital neurological disorders. Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce the incidence of neural tube defects. Therefore, it is recommended that all women of child-bearing age consume 0.4 mg of folic acid daily.

Organizations

Birth Defect Research for Children, Inc.

976 Lake Baldwin Lane, Suite 104
Orlando, FL 32814
Phone: 407.895.0802
Email: betty@birthdefects.org
Website: www.birthdefects.org

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Phone: 914.997.4488
Toll-free: 888.MODIMES (663.4637)
Fax: 914.428.8203
Email: askus@marchofdimes.com
Website: www.marchofdimes.com

National Organization for Rare Disorders (NORD)

55 Kenosia Avenue
Danbury, CT 06810
Phone: 203.744.0100
Voice Mail: 800.999.NORD (6673)
Fax: 203.798.2291
Email: orphan@rarediseases.org
Website: www.rarediseases.org

Source: National Institutes of Health; National Institute of Neurological Disorders and Stroke

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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 3/16/2012...#5998

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