Malformation of the neurenteric canal, spinal cord and column

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1Active trials8Treatment centers

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Overview

Malformation of the neurenteric canal, spinal cord, and column is a rare congenital condition that occurs during early embryonic development. During normal development, the neurenteric canal is a temporary connection between the developing gut (endoderm) and the developing nervous system (ectoderm). When this canal does not close or develop properly, it can lead to a range of structural abnormalities affecting the spinal cord, the spinal column (vertebrae), and sometimes the gastrointestinal tract. These malformations may include neurenteric cysts (fluid-filled sacs along the spine), split cord malformations (where the spinal cord is divided), vertebral anomalies such as butterfly vertebrae or hemivertebrae, and connections between the spinal canal and the gut. Symptoms depend on the specific structures involved and can range from back pain and neurological problems like weakness or numbness in the legs, to bowel or bladder dysfunction. Some patients may have visible skin abnormalities over the spine at birth, such as dimples, hair tufts, or fatty lumps. Treatment is primarily surgical and aims to remove cysts, release tethered spinal cord, and correct vertebral deformities when needed. Long-term follow-up with multiple specialists is important because some problems can develop or worsen as a child grows. The severity varies widely, from mild cases found incidentally to severe cases with significant neurological impairment.

Key symptoms:

Back pain or neck painWeakness in the legsNumbness or tingling in the limbsDifficulty walkingBowel control problemsBladder control problemsAbnormal curvature of the spine (scoliosis)Skin abnormalities over the spine such as dimples, hair tufts, or fatty lumpsRecurrent meningitis (in cases with gut-spinal connections)Stiffness or tightness in the legsAbnormally shaped vertebrae seen on imagingFluid-filled cyst along the spineTethered spinal cord symptoms that worsen with growth

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

FDA & Trial Timeline

1 event
May 2022Investigation of Surgical Sectioning of the Filum Terminale in Treating Occult Tethered Cord Syndrome Patients

Weill Medical College of Cornell University — PHASE2

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Malformation of the neurenteric canal, spinal cord and column.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →
Phase 21 trial
Investigation of Surgical Sectioning of the Filum Terminale in Treating Occult Tethered Cord Syndrome Patients
Phase 2
Actively Recruiting
PI: Jeffrey Greenfield, MD, PhD (Weill Medical College of Cornell University) · Sites: New York, New York · Age: 280 yrs

No specialists are currently listed for Malformation of the neurenteric canal, spinal cord and column.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Malformation of the neurenteric canal, spinal cord and column.

Search all travel grants →NORD Financial Assistance ↗

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.What specific type of spinal malformation does my child have, and how severe is it?,Is surgery recommended, and if so, what are the risks and expected outcomes?,How often will follow-up MRI scans and neurological exams be needed?,Are there signs I should watch for that would indicate the condition is getting worse?,Will my child need physical therapy, and what exercises can we do at home?,How might this condition affect my child's growth and development over time?,Is there a risk of recurrence after surgery, and what would that look like?

Common questions about Malformation of the neurenteric canal, spinal cord and column

What is Malformation of the neurenteric canal, spinal cord and column?

Malformation of the neurenteric canal, spinal cord, and column is a rare congenital condition that occurs during early embryonic development. During normal development, the neurenteric canal is a temporary connection between the developing gut (endoderm) and the developing nervous system (ectoderm). When this canal does not close or develop properly, it can lead to a range of structural abnormalities affecting the spinal cord, the spinal column (vertebrae), and sometimes the gastrointestinal tract. These malformations may include neurenteric cysts (fluid-filled sacs along the spine), split cor

How is Malformation of the neurenteric canal, spinal cord and column inherited?

Malformation of the neurenteric canal, spinal cord and column follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Malformation of the neurenteric canal, spinal cord and column typically begin?

Typical onset of Malformation of the neurenteric canal, spinal cord and column is neonatal. Age of onset can vary across affected individuals.

Are there clinical trials for Malformation of the neurenteric canal, spinal cord and column?

Yes — 1 recruiting clinical trial is currently listed for Malformation of the neurenteric canal, spinal cord and column on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.