Overview
Craniorachischisis is one of the most severe types of neural tube defects — a group of birth conditions where the brain and spinal cord do not form properly during early pregnancy. In craniorachischisis, the neural tube (the structure that becomes the brain and spine) fails to close almost entirely. This means the brain, skull, and the full length of the spinal column are all open and exposed. The condition is also sometimes called 'total dysraphism' or 'complete craniorachischisis.' It affects the entire central nervous system from the head down through the back. Because the brain and spinal cord are so severely affected, craniorachischisis is not compatible with life outside the womb. Most pregnancies affected by this condition end in miscarriage or stillbirth. Babies born alive typically survive only for a very short time after birth. There are no functional brain structures capable of supporting breathing, feeding, or awareness. There is no treatment that can repair or reverse the damage caused by craniorachischisis. Care is focused on supporting families through the diagnosis, which is usually made during pregnancy via ultrasound. Genetic counseling is an important part of care for families who have had an affected pregnancy, as there may be a small increased risk in future pregnancies. Folic acid supplementation before and during early pregnancy is known to reduce the risk of neural tube defects in general.
Key symptoms:
Complete failure of the skull and spine to close, leaving the brain and spinal cord exposedAbsence of normal brain developmentNo skull bones covering the brain (anencephaly component)Open spine from top to bottom (rachischisis)No ability to breathe independentlyNo ability to feedNo awareness or consciousnessStillbirth or death very shortly after birth
Clinical phenotype terms (9)— hover any for plain English
Multifactorial
Caused by a mix of several genes and environmental factors
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Craniorachischisis.
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Specialists
View all specialists →No specialists are currently listed for Craniorachischisis.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Craniorachischisis.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What caused this to happen, and could it happen again in a future pregnancy?,What dose of folic acid should I take before my next pregnancy, and when should I start?,Are there any genetic tests I or my partner should have to better understand our risk?,What prenatal testing options are available to monitor a future pregnancy for neural tube defects?,Can you refer me to a genetic counselor and a bereavement support specialist?,Are there any research studies or registries I could participate in to help other families?,What support resources are available for families who have experienced this type of loss?
Common questions about Craniorachischisis
What is Craniorachischisis?
Craniorachischisis is one of the most severe types of neural tube defects — a group of birth conditions where the brain and spinal cord do not form properly during early pregnancy. In craniorachischisis, the neural tube (the structure that becomes the brain and spine) fails to close almost entirely. This means the brain, skull, and the full length of the spinal column are all open and exposed. The condition is also sometimes called 'total dysraphism' or 'complete craniorachischisis.' It affects the entire central nervous system from the head down through the back. Because the brain and spinal
How is Craniorachischisis inherited?
Craniorachischisis follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Craniorachischisis typically begin?
Typical onset of Craniorachischisis is neonatal. Age of onset can vary across affected individuals.