Overview
Cervical spina bifida cystica is a rare birth defect that occurs in the neck (cervical) region of the spine. In this condition, the bones of the spine do not close properly during early pregnancy, leaving a gap through which the spinal cord membranes and sometimes the spinal cord itself can push outward, forming a fluid-filled sac (cyst) on the back of the neck. This is a type of neural tube defect. The term 'cystica' means that a visible sac or cyst is present, which may contain spinal fluid (meningocele) or both spinal fluid and nerve tissue (myelomeningocele). Because this defect occurs in the cervical spine, it can potentially affect nerve function in the arms, trunk, and legs, depending on the severity and the exact location. Symptoms can range from mild to severe and may include weakness or paralysis in the arms and legs, loss of sensation, difficulty breathing, and problems with bladder and bowel control. Note that this Orphanet entry is marked as 'OBSOLETE,' meaning it may have been reclassified or merged into a broader category of spina bifida or neural tube defects. Treatment typically involves surgical repair of the defect shortly after birth, along with ongoing supportive care from a team of specialists. The outlook depends heavily on how much nerve tissue is involved and whether there are additional brain abnormalities such as Chiari malformation or hydrocephalus.
Key symptoms:
Visible sac or swelling on the back of the neck at birthWeakness or paralysis in the armsWeakness or paralysis in the legsLoss of feeling or sensation below the neckDifficulty breathingProblems with bladder controlProblems with bowel controlBuildup of fluid in the brain (hydrocephalus)Abnormal head shape or sizeDifficulty swallowing or feedingAbnormal curvature of the spineDevelopmental delaysRecurrent urinary tract infections
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: Cervical spina bifida cystica.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Cervical 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: Cervical 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.How severe is my child's spinal defect, and which nerves are affected?,Will my child need surgery, and what are the risks and expected outcomes?,Is there hydrocephalus, and will a shunt be needed?,What level of mobility and independence can we expect as my child grows?,What therapies should we start, and how often will they be needed?,Are there any genetic tests recommended for our family, and what is the chance of this happening in a future pregnancy?,How much folic acid should I take if I plan another pregnancy?
Common questions about OBSOLETE: Cervical spina bifida cystica
What is OBSOLETE: Cervical spina bifida cystica?
Cervical spina bifida cystica is a rare birth defect that occurs in the neck (cervical) region of the spine. In this condition, the bones of the spine do not close properly during early pregnancy, leaving a gap through which the spinal cord membranes and sometimes the spinal cord itself can push outward, forming a fluid-filled sac (cyst) on the back of the neck. This is a type of neural tube defect. The term 'cystica' means that a visible sac or cyst is present, which may contain spinal fluid (meningocele) or both spinal fluid and nerve tissue (myelomeningocele). Because this defect occurs in
How is OBSOLETE: Cervical spina bifida cystica inherited?
OBSOLETE: Cervical spina bifida cystica follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Cervical spina bifida cystica typically begin?
Typical onset of OBSOLETE: Cervical spina bifida cystica is neonatal. Age of onset can vary across affected individuals.