National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Colpocephaly

Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or 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.[1]  
Last updated: 11/12/2012
Colpocephaly is characterized by a small head circumference and in many cases, intellectual disability.[2] Other signs and symptoms may include movement abnormalities, muscle spasms, and seizures.[1] Poor vision, speech and language difficulties, deafness, and chorioretinitis have been described in individual cases.[2] Cases of people with colpocephaly and normal neurological and motor development have also been described.[2][3]
Last updated: 11/12/2012
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.[1] The underlying causes of colpocephaly are multiple and diverse. Causes include chromosomal anomalies such as trisomy-8 mosaicism and trisomy-9 mosaicism; intrauterine infection such as toxoplasmosis; perinatal anoxic-ischemic encephalopathy; and maternal drug ingestion during early pregnancy, such as corticosteroids, salbutamol, and theophylline. In addition, a familial occurrence of colpocephaly has been noted in three reports. A genetic origin with an autosomal recessive or X-linked recessive inheritance was suggested in these familial cases.[3]
Last updated: 7/8/2013
There is no definitive treatment for colpocephaly. Anticonvulsant medications are often prescribed to prevent seizures, and doctors rely on exercise therapies and orthopedic appliances to reduce shrinkage or shortening of muscles.[1]
Last updated: 7/8/2013
Colpocephaly has been found in association with several other central nervous system malformations.[3] The prognosis for individuals with colpocephaly depends on the severity of the associated conditions and the degree of abnormal brain development.[1] Associated conditions and malformations include; agenesis of corpus callosum, neuronal migration disorders (lissencephaly, pachygyria), schizencephaly, microgyria, macrogyria, enlargement of cisterna magna, cerebellar atrophy, optic nerve hypoplasia, chorioretinal coloboma, microcephaly, meningomyelocele, and hydrocephalus. Other associated anomalies included micrognathia, hypoplastic nails, simian creases, Pierre-Robin syndrome, and neurofibromatosis.[3]
Last updated: 7/8/2013

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

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

In-Depth Information

  • 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Colpocephaly. Click on the link to view a sample search on this topic.

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  • I am 6 months pregnant and was told that my baby has colpocephaly. I would like to learn more about this condition and what the prognosis is for a baby born with it. See answer


  1. NINDS Colpocephaly Information Page. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Colpocephaly-Information-Page.
  2. Colpocephaly. Fetus.net. 1992; https://sonoworld.com/TheFetus/page.aspx?id=100. Accessed 2/1/2008.
  3. Puvabanditsin S, Garrow E, Ostrerov Y, Trucanu D, Ilic M, Cholenkeril JV. Colpocephaly: A Case Report. Am J Perinatol. 2006 Jul; 23(5):295-7. https://www.ncbi.nlm.nih.gov/pubmed/?term=16799912.