Colpocephaly is a rare genetic condition involving the enlargement of the rear parts of two brain cavities called the lateral ventricles. It’s most often diagnosed in infants.

Colpocephaly is commonly associated with:

  • malformation of the corpus callosum (the part of your brain that connects the left and right hemispheres)
  • Chiari malformations (a condition in which the lower part of your brain pushes on your spinal canal)
  • lissencephaly (the absence of folds in the outer part of your brain, which is the cerebral cortex)
  • microcephaly (an atypically small head)

Colpocephaly occurs due to problems with brain development in the womb, although healthcare professionals often cannot identify the exact cause.

Read on to learn more about colpocephaly, including its symptoms, treatment options, and potential causes.

Colpocephaly can cause signs and symptoms such as:

Other conditions associated with colpocephaly can cause additional symptoms. For example, lissencephaly is also associated with:

  • trouble swallowing
  • congenital developmental irregularities of the limbs, fingers, and toes
  • facial structure irregularities

Health experts believe that colpocephaly may result from disturbances in a child’s brain development in the second through sixth months of pregnancy. While healthcare professionals often do not know the exact underlying cause, the condition has been linked to:

In a small 2016 study in Brazil, researchers found that 13 of 16 infants who had the Zika virus and atypical findings on a computed tomography (CT) scan also had decreased brain volume. Ten of the babies had colpocephaly.

Genetics of colpocephaly

Researchers are still investigating genetic factors that may contribute to the development of colpocephaly. In a 2023 case study, researchers reported a 5-year-old girl with mutations in the TSC1 gene who had:

  • colpocephaly
  • microcephaly
  • underdevelopment of the corpus callosum
  • structural differences in the parietal and temporal lobes
  • intellectual disability
  • delayed growth

CENPJ mutations have been linked to microcephaly and colpocephaly

FOXC1 and PITX2 gene mutations are associated with Axenfield-Rieger syndrome, which can be associated with colpocephaly.

Colpocephaly severity varies from person to person. The condition can cause many complications, including:

  • learning disabilities
  • developmental delays
  • physical disabilities
  • seizures

It’s important to consult your child’s doctor any time your child has seizures or you notice other symptoms of neurological problems, such as developmental delays or difficulties with movement.

These problems have many possible causes. Doctors can order tests such as brain imaging to check for differences in your child’s brain. They can also recommend treatment options to manage your child’s symptoms and support their development.

A doctor may diagnose colpocephaly late in pregnancy, before your child is born, but it’s usually more accurately diagnosed after birth. When attempting to diagnose the condition before your child is born, doctors may misdiagnose it as hydrocephalus (the buildup of cerebrospinal fluid in the cavities in your child’s brain).

Magnetic resonance imaging (MRI) scans can reveal structural differences in your child’s brain. CT scans can show differences in the development of their skull.

In a 2019 case study, researchers reported only the ninth known case of colpocephaly being diagnosed in adulthood without symptoms. The 29-year-old man had intermittent throbbing headaches lasting minutes to hours.

Colpocephaly is present from birth, and there’s no known cure. There’s also no treatment to reverse the structural differences in the brain.

Treatment for colpocephaly revolves around treating associated complications. Treatment options might include:

Researchers have not yet found any specific ways to prevent colpocephaly. You might be able to support your child’s development during your pregnancy by avoiding exposure to chemicals and infections that are linked to developmental irregularities.

Preventable contributors to fetal development irregularities include:

The outlook for colpocephaly can vary significantly from person to person depending on the condition’s severity and on whether other structural brain differences are present. It isn’t a fatal condition but can create many challenges. However, some people with this condition never have noticeable symptoms.

You can support your child by speaking with their doctors regularly and seeking prompt medical attention if they experience complications such as seizures.

Here are some frequently asked questions people have about colpocephaly.

What conditions are associated with colpocephaly?

Colpocephaly is associated with conditions like:

Is colpocephaly progressive?

Colpocephaly is not a progressive condition. But hydrocephalus, a condition with similar symptoms and signs, can get progressively worse.

Colpocephaly can cause intellectual disability, seizures, difficulties with movement, and other issues. The condition is rare, and some people do not receive a diagnosis until adulthood.

It’s important to visit your child’s doctor as soon as possible if you suspect that your child has a condition that is interfering with their development or causing neurological symptoms such as seizures.