Colpocephaly

Colpocephaly is a congenital brain abnormality in which the occipital horns—the posterior (rear) portion of the lateral ventricles (cavities) of the brain—are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken. Colpocephaly is characterized by microcephaly (an abnormally small head) and impaired intellect. Other features may include movement abnormalities, muscle spasms, and seizures.

Although the cause of colpocephaly is unknown, researchers believe that the disorder results from some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy.

Colpocephaly may be diagnosed late in pregnancy, but it is often misdiagnosed as hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). It may be more accurately diagnosed after birth when signs of impaired intellect, microcephaly, and seizures are present.

How can I or my loved one help improve care for people with colpocephaly?

Colpocephaly is considered a rare disease, which often means there is not much information known about it. This is usually the case because doctors and researchers do not see many people with colpocephaly, which makes it hard to learn from them through observations or large studies.

Consider participating in a clinical trial so clinicians and scientists can learn more about the colpocephaly and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with colpocephaly at Clinicaltrials.gov.

Where can I find more information about colpocephaly?

More information may be available from the following organizations and resources:

Birth Defect Research for Children, Inc.
Phone: 407-895-0802

Genetic and Rare Diseases (GARD) Information Center

March of Dimes
Phone: 888-663-4637

PubMed

Content source: https://www.ninds.nih.gov/health-information/disorders/colpocephaly Accessed June 22, 2023.

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