Overview
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is an extremely rare congenital condition that affects the development of the spine and lower back. In this syndrome, the sacrum (the triangular bone at the base of the spine) fails to form properly, which is called sacral agenesis. Additionally, the bones of the spine (vertebral bodies) do not harden and develop normally, a process known as abnormal ossification. The condition also involves a persistent notochordal canal, which means that a structure from early embryonic development that normally disappears before birth remains present within the vertebral bodies. Together, these features can lead to problems with posture, movement, and nerve function in the lower body. Patients may experience weakness or numbness in the legs, bladder and bowel control difficulties, and skeletal abnormalities visible on imaging. Because this syndrome is so rare, treatment is mainly supportive and focused on managing individual symptoms. Orthopedic interventions, physical therapy, and urological management may be needed depending on the severity of the spinal and nerve involvement. Early diagnosis through imaging and genetic evaluation is important to plan appropriate care.
Key symptoms:
Absent or underdeveloped sacrum (lower spine bone)Abnormal shape or formation of the spinal bonesLeg weakness or reduced movementNumbness or reduced sensation in the legsBladder control problemsBowel control problemsAbnormal curvature of the spineDifficulty walking or delayed walkingHip abnormalitiesLower back pain or instabilityFoot deformities such as clubfootShort stature or shortened trunk
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome.
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 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome.
Community
No community posts yet. Be the first to share your experience with Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome.
Start the conversation →Latest news about Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
No recent news articles for Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome.
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.How severe is the sacral agenesis and what parts of the spine are affected?,What is the current status of my child's bladder and bowel function, and what management plan do you recommend?,Will my child need surgery, and if so, what kind and when?,What physical therapy or rehabilitation services should we start?,Are there genetic tests that could help us understand the cause and any risk to future children?,What signs of complications should I watch for at home?,How often should we schedule follow-up visits with each specialist?
Common questions about Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
What is Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome?
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is an extremely rare congenital condition that affects the development of the spine and lower back. In this syndrome, the sacrum (the triangular bone at the base of the spine) fails to form properly, which is called sacral agenesis. Additionally, the bones of the spine (vertebral bodies) do not harden and develop normally, a process known as abnormal ossification. The condition also involves a persistent notochordal canal, which means that a structure from early embryonic development that normal
How is Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome inherited?
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome typically begin?
Typical onset of Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is neonatal. Age of onset can vary across affected individuals.