Overview
Cervicothoracic spina bifida aperta is a type of neural tube defect, which is a birth defect that occurs when the spine and spinal cord do not form properly during early pregnancy. In this specific form, the opening in the spine (called "aperta," meaning open) occurs in the cervicothoracic region — the area where the neck (cervical spine) meets the upper back (thoracic spine). This means that part of the spinal cord and its protective coverings may be exposed or bulge through a gap in the backbone at this level. Note that this condition is listed as "OBSOLETE" in the Orphanet classification, meaning it has been reclassified or merged into a broader category of spina bifida or neural tube defects. Patients with this condition may now be classified under more general spina bifida aperta or open spina bifida categories. Because the defect is located high on the spine, it can cause significant problems with movement and sensation in the arms, trunk, and legs. Babies born with this condition may have weakness or paralysis below the level of the defect, problems with bladder and bowel control, and may develop hydrocephalus (excess fluid in the brain). The severity varies depending on the exact location and size of the opening. Treatment typically involves surgical closure of the defect shortly after birth, management of hydrocephalus if present, and ongoing rehabilitation and supportive care throughout life. Advances in prenatal diagnosis and fetal surgery have improved outcomes for some patients with open spina bifida.
Key symptoms:
Visible opening or sac on the upper back or neck at birthWeakness or paralysis in the arms and legsLoss of sensation below the level of the spinal defectDifficulty controlling the bladderDifficulty controlling the bowelsBuildup of fluid in the brain (hydrocephalus)Abnormal curvature of the spine (scoliosis or kyphosis)Difficulty breathing in severe casesProblems with coordination and balanceSkin breakdown or pressure soresRecurrent urinary tract infectionsLearning difficulties in some casesChiari malformation (brain tissue extending into the spinal canal)
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 eventsOptimal Mobility, Inc — NA
David Chu
Central Hospital, Nancy, France — PHASE3
University of Colorado, Denver — NA
Hasan Kalyoncu University — NA
University College, London
Assiut University — NA
Marmara University
McGill University — NA
University of California, Davis — PHASE1, PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Cervicothoracic spina bifida aperta.
3 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: Cervicothoracic 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: Cervicothoracic spina bifida aperta.
Community
No community posts yet. Be the first to share your experience with OBSOLETE: Cervicothoracic spina bifida aperta.
Start the conversation →Latest news about OBSOLETE: Cervicothoracic spina bifida aperta
No recent news articles for OBSOLETE: Cervicothoracic spina bifida aperta.
Follow this condition to be notified when news becomes available.
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 exact location and extent of my child's spinal defect, and what does this mean for their function?,Does my child have hydrocephalus, and will they need a shunt?,What therapies and rehabilitation services should we start, and how often?,How should we manage bladder and bowel care, and what signs of problems should we watch for?,Was fetal surgery considered, and if not, why?,What is the risk of this happening again in a future pregnancy, and how can we reduce that risk?,What specialists should be part of my child's care team, and how often should we see them?
Common questions about OBSOLETE: Cervicothoracic spina bifida aperta
What is OBSOLETE: Cervicothoracic spina bifida aperta?
Cervicothoracic spina bifida aperta is a type of neural tube defect, which is a birth defect that occurs when the spine and spinal cord do not form properly during early pregnancy. In this specific form, the opening in the spine (called "aperta," meaning open) occurs in the cervicothoracic region — the area where the neck (cervical spine) meets the upper back (thoracic spine). This means that part of the spinal cord and its protective coverings may be exposed or bulge through a gap in the backbone at this level. Note that this condition is listed as "OBSOLETE" in the Orphanet classification,
How is OBSOLETE: Cervicothoracic spina bifida aperta inherited?
OBSOLETE: Cervicothoracic spina bifida aperta follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Cervicothoracic spina bifida aperta typically begin?
Typical onset of OBSOLETE: Cervicothoracic spina bifida aperta is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for OBSOLETE: Cervicothoracic spina bifida aperta?
Yes — 3 recruiting clinical trials are currently listed for OBSOLETE: Cervicothoracic spina bifida aperta on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.