Fibroneural non-saccular limited dorsal myeloschisis

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ORPHA:645310
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2Active trials8Treatment centers

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Overview

Fibroneural non-saccular limited dorsal myeloschisis is an extremely rare congenital spinal cord defect. It belongs to a group of conditions called limited dorsal myeloschisis (LDM), which are a type of spinal dysraphism — meaning the spine and spinal cord did not form properly during early development in the womb. In this specific subtype, a stalk of fibrous and neural tissue connects the spinal cord to the skin surface through a defect in the back, but unlike some other forms, it does not form a sac (non-saccular). The "fibroneural" part means the stalk contains both fibrous (connective) tissue and nerve tissue elements. This condition is present at birth and is usually noticed as a skin abnormality on the baby's back, such as a dimple, skin tag, or unusual patch of skin. The spinal cord may be tethered (held in place abnormally) by this stalk, which can lead to neurological problems over time, including weakness in the legs, changes in bladder or bowel function, and pain. Diagnosis is typically made through imaging studies such as MRI. Treatment usually involves neurosurgery to release the tethered spinal cord and remove the abnormal stalk, which can help prevent worsening neurological symptoms. Early detection and treatment generally lead to better outcomes.

Also known as:

Key symptoms:

Skin abnormality on the back such as a dimple, skin tag, or discolored patchTethered spinal cordLeg weaknessDifficulty with bladder controlDifficulty with bowel controlBack pain or leg painAbnormal gait or difficulty walkingNumbness or tingling in the legs or feetFoot deformities such as clubfootScoliosis or curvature of the spineMuscle wasting in the legs

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

2 events
Nov 2023Uronephrological Complications Risk Factors in Spinal Dysraphism

Assistance Publique - Hôpitaux de Paris

TrialRECRUITING
Jul 2021Assessment of Functional Independence and Quality of Life in Adolescents With Spina Bifid

Azienda USL Reggio Emilia - IRCCS

TrialACTIVE NOT RECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Fibroneural non-saccular limited dorsal myeloschisis.

2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

2 recruitingView all trials with filters →
Other2 trials
Uronephrological Complications Risk Factors in Spinal Dysraphism
Actively Recruiting
· Sites: Paris · Age: 1899 yrs
Assessment of Functional Independence and Quality of Life in Adolescents With Spina Bifid
Active
· Sites: Parma, Parma · Age: 1421 yrs

No specialists are currently listed for Fibroneural non-saccular limited dorsal myeloschisis.

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 Fibroneural non-saccular limited dorsal myeloschisis.

Search all travel grants →NORD Financial Assistance ↗

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Questions for your doctor

Bring these to your next appointment

  • Q1.How severe is the tethering of my child's spinal cord?,When should surgery be performed, and what are the risks?,What neurological outcomes can we expect after surgery?,How often will follow-up MRI scans be needed?,What signs of re-tethering should I watch for after surgery?,Will my child need physical therapy or other rehabilitation?,Are there any long-term bladder or bowel concerns we should plan for?

Common questions about Fibroneural non-saccular limited dorsal myeloschisis

What is Fibroneural non-saccular limited dorsal myeloschisis?

Fibroneural non-saccular limited dorsal myeloschisis is an extremely rare congenital spinal cord defect. It belongs to a group of conditions called limited dorsal myeloschisis (LDM), which are a type of spinal dysraphism — meaning the spine and spinal cord did not form properly during early development in the womb. In this specific subtype, a stalk of fibrous and neural tissue connects the spinal cord to the skin surface through a defect in the back, but unlike some other forms, it does not form a sac (non-saccular). The "fibroneural" part means the stalk contains both fibrous (connective) tis

How is Fibroneural non-saccular limited dorsal myeloschisis inherited?

Fibroneural non-saccular limited dorsal myeloschisis follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Fibroneural non-saccular limited dorsal myeloschisis typically begin?

Typical onset of Fibroneural non-saccular limited dorsal myeloschisis is neonatal. Age of onset can vary across affected individuals.

Are there clinical trials for Fibroneural non-saccular limited dorsal myeloschisis?

Yes — 2 recruiting clinical trials are currently listed for Fibroneural non-saccular limited dorsal myeloschisis on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.