Agenesis of the Corpus Callosum

What are the signs and symptoms of agenesis of the corpus callosum?  

The signs and symptoms of agenesis of the corpus callosum can vary and depend on many factors. Some signs and symptoms may include:  

• Developmental delays 
• Difficulty feeding  
• Headaches  
• Hormonal abnormalities 
• Hydrocephalus, fluid buildup in the brain  
• Impaired hearing or vision  
• Problems with hand-eye coordination, especially with skills that require the right and left hands working together   
• Seizures 
• Speech delays  

Children with agenesis of the corpus callosum may have differences in appearance, including:  

• Bent fingers 
• Wide- or deep-set eyes 
• Irregularly shaped ears or nose 
• Poor muscle tone (hypotonia)  
• Skin tags 
• Unusually large or small head with a large forehead  

Early evaluation is important, because agenesis of the corpus callosum can be associated with other congenital (present at birth) conditions, including: 

• Chiari malformation 
• Dandy-Walker malformation 
• Holoprosencephaly
• Schizencephaly
• Septo-optic dysplasia spectrum
• Heart abnormalities

How do we diagnose agenesis of the corpus callosum?  

In some cases, we can see agenesis of the corpus callosum during a routine fetal ultrasound. If they suspect your baby could have the condition, they may use additional tests to confirm the diagnosis and evaluate other structures, such as:  

• Amniocentesis to test your amniotic fluid for genetic conditions 
• Blood tests to check for infections, genetic conditions or test their hormone levels  
• Fetal echocardiogram to evaluate the structure and function of your baby’s heart 
• Fetal MRI to get a more detailed picture of your baby’s organs, especially the brain 

After birth, similar evaluations may occur, including: 

• Blood tests to check for genetic conditions and hormone levels 
• MRI or CT cans to evaluate brain structures 
• Physical examinations, including eye exams  

The Colorado Fetal Care Center offers comprehensive prenatal genetic testing and state-of-the-art imaging to accurately evaluate and diagnose congenital conditions such as agenesis of the corpus callosum. We help you understand your baby’s health and work with you to help choose the most effective treatment options. 

How do we treat agenesis of the corpus callosum?  

There are no treatments for agenesis of the corpus callosum, but an expert evaluation and diagnosis allows for counseling and care planning before birth.

After birth, agenesis of the corpus callosum treatment focuses on managing symptoms. Most children benefit from neurology care, as well as physical therapy and occupational therapy, to help manage symptoms, increase strength and improve their day-to-day functioning. Depending on the severity of the condition, treatment may also include:  

• Educational support, such as an individualized education program (IEP), to help children thrive in school 
• Genetic counseling to understand the entire family’s risk for the condition 
• Medications to control seizures  
• Speech-language therapy to improve communication 
• Surgery to place a shunt that drains excess fluid from the brain, if a child has hydrocephalus  

Why choose Children’s Colorado for treatment for agenesis of the corpus callosum?  

At the Colorado Fetal Care Center, we provide comprehensive, advanced care for your baby before and after birth. Your treatment is in the hands of leading fetal care specialists who offer world-class testing, accurate diagnoses and state-of-the-art treatments. We offer:  

• Expert team: Caring for babies with agenesis of the corpus callosum often requires multiple specialists working together. For your first visit, we bring all the necessary experts together in one convenient appointment and location. Whether it’s fetal radiology, fetal surgery, genetics, pediatric neurology or other experts, you have access to an entire team involved in your baby’s care from the very start. And those specialists will stay with you for as long as your child needs them. 
• Supportive environment: We designed our Center to care for both parents and babies and allow them to stay close, even if your baby needs immediate care at birth. For example, some babies with agenesis of the corpus callosum also have hydrocephalus and need surgery to place a shunt. In these cases, you’ll be able to visit your newborn and actively participate in their care and recovery. For babies who need more advanced care, our Neonatal Intensive Care Unit (NICU) treats more babies than almost any NICU in the nation, with outcomes that rank above the national average. 

• Seamless transitions: Your baby’s needs don’t end at delivery. Children with agenesis of the corpus callosum often require lifelong support from physical, occupational or speech therapy. At Children’s Hospital Colorado, your child has seamless access to pediatric specialty care, such as rehabilitation services, neurology and neurosurgery and genetic counseling, all under one roof.

Contact us

Learn more about the Colorado Fetal Care Center or call 720-777-4463. 

Helpful resources 

• The National Institute of Neurological Disorders and Stroke offers additional information about agenesis of the corpus callosum, including how to find clinical trials. 
• MotherToBaby provides evidence-based education on the benefits and risks of exposure to medications, chemicals, vaccines and other substances during pregnancy.