Overview
Total spina bifida aperta is an extremely severe form of spina bifida, a birth defect where the bones of the spine (vertebrae) do not fully close around the spinal cord during early pregnancy. In this condition, the opening extends along the entire length of the spine, leaving the spinal cord and its surrounding membranes exposed or protruding through the back. This is sometimes also called total rachischisis or complete spina bifida aperta. Because the defect involves the whole spine, the condition is far more severe than the more common localized forms of spina bifida. Babies born with this condition typically have profound neurological problems, including complete paralysis of the legs, loss of sensation below the defect, and loss of bladder and bowel control. The brain is also frequently affected, often with associated conditions such as anencephaly or other major brain malformations. Due to the extreme severity and extent of the defect, total spina bifida aperta is generally considered incompatible with life, and most affected pregnancies result in stillbirth or death shortly after birth. Note: This condition is listed as 'OBSOLETE' in the Orphanet classification, meaning it may have been reclassified or merged into broader categories of neural tube defects. Patients and families seeking information should discuss the specific diagnosis with their medical team, as terminology and classification may vary. There is no curative treatment for this condition. Prenatal diagnosis through ultrasound and maternal blood tests (such as alpha-fetoprotein screening) can detect the defect during pregnancy. Folic acid supplementation before and during early pregnancy is known to reduce the risk of neural tube defects in general.
Key symptoms:
Entire spine is open at birthExposed spinal cord and membranes along the full backComplete paralysis of the legsNo sensation below the defectLoss of bladder controlLoss of bowel controlSevere brain abnormalitiesBuildup of fluid in the brain (hydrocephalus)Breathing difficultiesInability to feedVery low muscle toneSevere developmental impairment
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 OBSOLETE: Total spina bifida aperta.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Total spina bifida aperta.
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 OBSOLETE: Total spina bifida aperta.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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.How certain is this diagnosis, and are there additional tests that could provide more information?,What are our options for managing the rest of this pregnancy?,What will happen at birth, and what comfort care will be available for our baby?,What is the chance this could happen again in a future pregnancy?,How much folic acid should I take before and during a future pregnancy to reduce the risk?,Can you connect us with a genetic counselor and a grief support specialist?,Are there any underlying genetic conditions we should be tested for?
Common questions about OBSOLETE: Total spina bifida aperta
What is OBSOLETE: Total spina bifida aperta?
Total spina bifida aperta is an extremely severe form of spina bifida, a birth defect where the bones of the spine (vertebrae) do not fully close around the spinal cord during early pregnancy. In this condition, the opening extends along the entire length of the spine, leaving the spinal cord and its surrounding membranes exposed or protruding through the back. This is sometimes also called total rachischisis or complete spina bifida aperta. Because the defect involves the whole spine, the condition is far more severe than the more common localized forms of spina bifida. Babies born with this
How is OBSOLETE: Total spina bifida aperta inherited?
OBSOLETE: Total spina bifida aperta follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Total spina bifida aperta typically begin?
Typical onset of OBSOLETE: Total spina bifida aperta is neonatal. Age of onset can vary across affected individuals.