Holoprosencephaly

What are holoprosencephaly symptoms?

The symptoms of HPE depend on which type your child has. However, nearly all children with this condition have motor issues and cognitive delays, which affect their mental development.

Low motor skills and slow language development

Children with alobar HPE don’t usually gain motor skills beyond rolling and they usually have limited arm use and language skills as well. They can usually only coo and make other vowel sounds.

Kids with semi-lobar and lobar HPE have more motor and language skills but still fall behind standard developmental milestones. Children with HPE may have difficulty eating and may need a gastrostomy tube (g-tube) for feeding.

Low hormone levels

Low hormone levels can cause slow growth, fatigue (being tired often), low blood sugar levels and low blood pressure levels.

Poor vision

Children with HPE may have visual problems due to small optic nerves or issues with visual pathways in their brain.

Seizures

Up to 80% of children with alobar HPE and 50% of children with other types of HPE have seizures.

What tests do we use to diagnose holoprosencephaly?

We diagnose HPE using fetal imaging. A fetal MRI is the best way to diagnose HPE while the baby is still in the womb because we can see their brain. Once your baby is diagnosed with HPE, we can do genetic testing such as amniocentesis (testing amniotic fluid) before birth, or genetic testing after birth to help see if your baby has a genetic syndrome. If we diagnose HPE before birth, we usually recommend an MRI after birth to better see their brain structure.

What can I expect from holoprosencephaly tests?

A fetal MRI takes 1 to 2 hours and is painless. For the test, we ask the mother to lie as still as possible so we can get an accurate image. After the MRI, our experienced fetal and neuro radiologists will review the images to make an accurate diagnosis and our team of specialists will discuss the results with you.

How do we treat holoprosencephaly?

HPE treatment focuses on addressing its symptoms. If your baby develops hydrocephalus (extra fluid around the brain), a neurosurgeon would place a shunt to drain the fluid and relieve the pressure. If your baby has a cleft lip or cleft palate, we can offer treatment through our Cleft Lip and Palate Program.

To help with any issues with vision, we perform a dilated eye exam to measure the optic nerves after birth. Our ophthalmologists (eye doctors) can offer the best vision care options.

For children with HPE, we recommend regular follow-up appointments with our endocrinologists to check for low hormone levels and start hormone replacement therapy if needed. Children with HPE also need regular therapies, such as physical therapy, occupational therapy and speech-language therapy to help them develop skills for day-to-day living. Because seizures are common in HPE, we may also recommend care from a neurologist. We may prescribe regular medication to help treat seizures.

Why choose us for holoprosencephaly treatment?

HPE is a complex condition that requires several children’s specialists. Children’s Hospital Colorado has all the specialists in one place to care for children with HPE, before and after birth. We have state-of-the-art fetal and postnatal (after birth) MRI imaging as well as renowned neuroradiologists to help give you an accurate diagnosis.

Our Colorado Fetal Care Center has one of the most experienced fetal care teams in the country with experience in caring for this rare condition. After birth, your baby will receive care in our nationally recognized Level IV (four) Neonatal Intensive Care Unit (NICU), which is recognized as providing the highest level of NICU care. With top specialists in endocrinology, genetics, neurology, neonatology, neurosurgery and ophthalmology, Children’s Colorado has the expertise and experience to help provide the best care for your baby, no matter their needs.

The Carter Centers for Brain Research in Holoprosencephaly and Related Brain Malformations helps educate families about HPE and how to manage their child's health. They also help families cope with the demands that often come with providing care for a child with special needs.

The National Institute of Health’s National Institute of Neurological Disorders and Stroke (NIHNINDS) provides basic knowledge about the brain and nervous system and uses that knowledge to make life easier for all people with a neurological disease.