Overview
Total spina bifida cystica is a severe form of spina bifida, which is a birth defect where the bones of the spine (vertebrae) do not form properly around the spinal cord. In this condition, the defect affects the entire length of the spine, and a fluid-filled sac (cyst) containing spinal cord tissue and nerves pushes through the opening in the back. This is one of the most severe types of neural tube defects, which are problems that happen very early in pregnancy when the brain and spinal cord are first forming. Because the defect involves the whole spine, this condition causes very serious problems including paralysis of the legs, loss of bladder and bowel control, and often hydrocephalus (a buildup of fluid in the brain). Babies born with this condition typically have significant neurological damage. The exposed or protruding spinal tissue is also at high risk for infection. Note that this Orphanet entry is marked as 'OBSOLETE,' meaning the classification has been updated or merged into other, more current diagnostic categories. Patients and families should work with their medical team to identify the most current terminology and classification for their specific condition. Treatment generally involves surgery shortly after birth to close the spinal defect, management of hydrocephalus with a shunt, and ongoing supportive care from a multidisciplinary team. Despite advances in treatment, the extensive nature of this defect means outcomes are often very serious.
Key symptoms:
Visible sac or opening along the entire back at birthComplete paralysis of the legsLoss of bladder controlLoss of bowel controlBuildup of fluid in the brain (hydrocephalus)Abnormal curvature of the spineLack of sensation below the defectDifficulty breathingRisk of brain infection (meningitis)Clubfoot or other foot deformitiesIntellectual disability in some casesSkin breakdown and pressure soresPoor growth and feeding difficulties
Multifactorial
Caused by a mix of several genes and environmental factors
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
10 eventsUniversity of Texas Southwestern Medical Center — NA
Mayo Clinic — NA
The University of Texas Health Science Center, Houston — NA
Superior University
Assistance Publique - Hôpitaux de Paris — NA
University of Deusto — NA
Rennes University Hospital — NA
Gaziantep City Hospital
University of St. Augustine for Health Sciences — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Total spina bifida cystica.
13 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Total spina bifida cystica.
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 cystica.
Community
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Start the conversation →Latest news about OBSOLETE: Total spina bifida cystica
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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 is the full extent of my child's spinal defect and how does it affect their nervous system?,Will my child need a shunt for hydrocephalus, and what are the signs of shunt problems?,What surgeries will be needed and when should they happen?,What level of mobility and independence can we expect with proper treatment?,How should we manage bladder and bowel care at home?,Are there clinical trials or new treatments we should know about?,What is the risk of this happening again in a future pregnancy, and how can we reduce that risk?
Common questions about OBSOLETE: Total spina bifida cystica
What is OBSOLETE: Total spina bifida cystica?
Total spina bifida cystica is a severe form of spina bifida, which is a birth defect where the bones of the spine (vertebrae) do not form properly around the spinal cord. In this condition, the defect affects the entire length of the spine, and a fluid-filled sac (cyst) containing spinal cord tissue and nerves pushes through the opening in the back. This is one of the most severe types of neural tube defects, which are problems that happen very early in pregnancy when the brain and spinal cord are first forming. Because the defect involves the whole spine, this condition causes very serious p
How is OBSOLETE: Total spina bifida cystica inherited?
OBSOLETE: Total spina bifida cystica follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Total spina bifida cystica typically begin?
Typical onset of OBSOLETE: Total spina bifida cystica is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for OBSOLETE: Total spina bifida cystica?
Yes — 13 recruiting clinical trials are currently listed for OBSOLETE: Total spina bifida cystica on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.