Overview
Cervicothoracic spina bifida cystica 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 occurs in the cervicothoracic region, which is the area where the neck (cervical spine) meets the upper back (thoracic spine). The term 'cystica' means that a fluid-filled sac protrudes through the opening in the spine, which may contain spinal membranes (meningocele) or both membranes and spinal cord tissue (myelomeningocele). This condition is present at birth and can cause a range of problems depending on the severity, including weakness or paralysis in the arms and legs, loss of sensation, bladder and bowel control difficulties, and potential brain-related complications such as hydrocephalus (fluid buildup in the brain). It is important to note that this Orphanet entry is marked as 'OBSOLETE,' meaning it has been retired or reclassified into broader or more specific categories of spina bifida. Patients with this condition may now be classified under other spina bifida codes. Treatment typically involves surgical repair of the spinal defect shortly after birth, management of hydrocephalus if present, and ongoing supportive care including physical therapy, occupational therapy, and monitoring of bladder and bowel function. The outlook varies widely depending on the size and location of the defect and whether the spinal cord itself is involved.
Key symptoms:
Visible sac or bulge on the upper back or neck area at birthWeakness or paralysis in the arms and/or legsLoss of feeling or sensation below the defectDifficulty controlling the bladderDifficulty controlling the bowelsHydrocephalus (fluid buildup in the brain)Breathing difficultiesDifficulty swallowingAbnormal curvature of the spine (scoliosis or kyphosis)Skin problems or sores due to lack of sensationRecurrent urinary tract infectionsLearning difficulties in some casesProblems with hand coordination and fine motor skills
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: Cervicothoracic spina bifida cystica.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Cervicothoracic 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: Cervicothoracic 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
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 extent of my child's spinal defect, and how much of the spinal cord is affected?,Will my child need a shunt for hydrocephalus, and what are the signs of shunt problems I should watch for?,What level of mobility and independence can we expect as my child grows?,What therapies and rehabilitation services should we start, and how often?,How should we manage bladder and bowel function, and when should we start catheterization?,Are there any clinical trials or new treatments we should consider?,What is the risk of this condition occurring in future pregnancies, and how can we reduce that risk?
Common questions about OBSOLETE: Cervicothoracic spina bifida cystica
What is OBSOLETE: Cervicothoracic spina bifida cystica?
Cervicothoracic spina bifida cystica 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 occurs in the cervicothoracic region, which is the area where the neck (cervical spine) meets the upper back (thoracic spine). The term 'cystica' means that a fluid-filled sac protrudes through the opening in the spine, which may contain spinal membranes (meningocele) or both membranes and spinal cord tissue (myelomeningocele). This condition is present at birth and c
How is OBSOLETE: Cervicothoracic spina bifida cystica inherited?
OBSOLETE: Cervicothoracic spina bifida cystica follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Cervicothoracic spina bifida cystica typically begin?
Typical onset of OBSOLETE: Cervicothoracic spina bifida cystica is neonatal. Age of onset can vary across affected individuals.