Overview
Upper thoracic spina bifida cystica is a type of neural tube defect that occurs in the upper part of the middle back (the upper thoracic spine). In this condition, the bones of the spine do not close properly during early development in the womb, leaving a gap through which the spinal cord and its protective membranes can push outward, forming a fluid-filled sac (cyst) on the baby's back. This is why it is called 'cystica' — referring to the cyst-like bulge. The term 'spina bifida' literally means 'split spine.' Note that this specific Orphanet entry is marked as OBSOLETE, meaning it has been retired as a standalone classification and is now typically grouped under the broader category of spina bifida or neural tube defects. The condition is present at birth and can cause a range of problems depending on how much of the spinal cord is involved. Symptoms may include weakness or paralysis in the legs, loss of sensation below the level of the defect, and problems with bladder and bowel control. Because the defect is in the upper thoracic region, the neurological effects can be more extensive than defects lower in the spine. Hydrocephalus (excess fluid in the brain) is a common associated problem. Treatment usually involves surgery shortly after birth to close the opening in the spine and protect the spinal cord from further damage. Ongoing care from multiple specialists is typically needed throughout life to manage complications such as mobility challenges, urinary issues, and potential learning difficulties.
Key symptoms:
Visible sac or bulge on the upper back at birthWeakness or paralysis in the legsLoss of feeling or sensation below the chestDifficulty controlling the bladderDifficulty controlling the bowelsBuildup of fluid in the brain (hydrocephalus)Abnormal curvature of the spine (scoliosis or kyphosis)Difficulty walking or inability to walkSkin sores from lack of sensationRecurrent urinary tract infectionsLearning difficulties in some casesTethered spinal cord causing worsening symptoms over timeChiari malformation (part of the brain pushes 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)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Upper thoracic spina bifida cystica.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Upper thoracic 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: Upper thoracic spina bifida cystica.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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 severe is the spinal cord involvement, and what level of function can we expect?,Will my child need a shunt for hydrocephalus, and what are the signs of shunt problems?,What therapies should we start, and how often will they be needed?,How will bladder and bowel function be managed as my child grows?,Are there any clinical trials or new treatments we should know about?,What should we watch for as emergency warning signs?,How can we best support my child's development and independence?
Common questions about OBSOLETE: Upper thoracic spina bifida cystica
What is OBSOLETE: Upper thoracic spina bifida cystica?
Upper thoracic spina bifida cystica is a type of neural tube defect that occurs in the upper part of the middle back (the upper thoracic spine). In this condition, the bones of the spine do not close properly during early development in the womb, leaving a gap through which the spinal cord and its protective membranes can push outward, forming a fluid-filled sac (cyst) on the baby's back. This is why it is called 'cystica' — referring to the cyst-like bulge. The term 'spina bifida' literally means 'split spine.' Note that this specific Orphanet entry is marked as OBSOLETE, meaning it has been
How is OBSOLETE: Upper thoracic spina bifida cystica inherited?
OBSOLETE: Upper thoracic spina bifida cystica follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Upper thoracic spina bifida cystica typically begin?
Typical onset of OBSOLETE: Upper thoracic spina bifida cystica is neonatal. Age of onset can vary across affected individuals.