OBSOLETE: Lipoma associated with neurospinal dysraphism

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ORPHA:268832
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Overview

Lipoma associated with neurospinal dysraphism refers to a condition where a fatty growth (lipoma) is found in connection with an abnormal development of the spine and spinal cord. This condition falls under the broader category of spinal dysraphism, which means the spine did not close properly during early development in the womb. The lipoma (a benign fatty lump) can be attached to or intertwined with the spinal cord or its coverings, and it is typically located in the lower back region. This entry in Orphanet is marked as 'OBSOLETE,' meaning it has been retired or reclassified and may now be categorized under more specific diagnoses such as spinal lipoma, lipomyelomeningocele, or other forms of occult spinal dysraphism. Common symptoms can include a visible lump or skin abnormality on the lower back, problems with bladder or bowel control, weakness or numbness in the legs, and foot deformities. Many cases are detected in infancy or early childhood, sometimes because of a visible skin marker like a dimple, tuft of hair, or fatty lump over the spine. Diagnosis typically involves imaging studies such as MRI of the spine. Treatment usually involves neurosurgical evaluation and, in many cases, surgery to untether the spinal cord and remove or reduce the lipoma to prevent worsening neurological problems. The condition is not inherited in a simple genetic pattern and is generally considered sporadic. Outcomes vary depending on the severity and timing of treatment, but early intervention can help preserve neurological function.

Key symptoms:

Fatty lump on the lower backSkin dimple or pit over the spineTuft of hair on the lower backWeakness in the legsNumbness or tingling in the legs or feetDifficulty with bladder control or urinary incontinenceBowel control problems or constipationFoot deformities such as clubfootUneven leg lengthBack painDifficulty walking or changes in gaitScoliosis or curvature of the spineRecurrent urinary tract infections

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 ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Lipoma associated with neurospinal dysraphism.

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No specialists are currently listed for OBSOLETE: Lipoma associated with neurospinal dysraphism.

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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

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Questions for your doctor

Bring these to your next appointment

  • Q1.How severe is the lipoma and how much is the spinal cord affected?,Is surgery recommended now, or can we safely monitor with regular imaging?,What are the risks and benefits of surgery for my child's specific situation?,What is the chance of the spinal cord becoming tethered again after surgery?,What bladder and bowel management strategies should we start?,How often will follow-up MRI scans and check-ups be needed?,What signs should prompt us to seek urgent medical attention?

Common questions about OBSOLETE: Lipoma associated with neurospinal dysraphism

What is OBSOLETE: Lipoma associated with neurospinal dysraphism?

Lipoma associated with neurospinal dysraphism refers to a condition where a fatty growth (lipoma) is found in connection with an abnormal development of the spine and spinal cord. This condition falls under the broader category of spinal dysraphism, which means the spine did not close properly during early development in the womb. The lipoma (a benign fatty lump) can be attached to or intertwined with the spinal cord or its coverings, and it is typically located in the lower back region. This entry in Orphanet is marked as 'OBSOLETE,' meaning it has been retired or reclassified and may now be

How is OBSOLETE: Lipoma associated with neurospinal dysraphism inherited?

OBSOLETE: Lipoma associated with neurospinal dysraphism follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does OBSOLETE: Lipoma associated with neurospinal dysraphism typically begin?

Typical onset of OBSOLETE: Lipoma associated with neurospinal dysraphism is neonatal. Age of onset can vary across affected individuals.