Spinal cord lipoma

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ORPHA:645276
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15Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Spinal cord lipoma is a rare congenital malformation in which a benign fatty mass (lipoma) is located within or adjacent to the spinal cord, most commonly in the lumbosacral region. It is classified as a form of occult spinal dysraphism (closed neural tube defect), meaning the overlying skin is typically intact, though a subcutaneous fatty mass, skin dimple, dermal sinus, or hairy patch may be visible over the lower back. The lipoma is attached to or integrated into the spinal cord and its coverings, and it can cause tethering of the spinal cord, restricting its normal movement within the spinal canal. The condition primarily affects the nervous system and musculoskeletal system. Key clinical features result from spinal cord tethering and compression and may include progressive lower limb weakness, gait abnormalities, sensory changes in the legs and perineum, lower back or leg pain, foot deformities (such as clubfoot or cavus foot), scoliosis, and neurogenic bladder and bowel dysfunction (urinary incontinence, constipation, or fecal incontinence). Symptoms may be present from birth or may develop insidiously during childhood as the child grows and the tethered cord is subjected to increasing traction. Some patients remain asymptomatic and are diagnosed incidentally. Diagnosis is typically made through magnetic resonance imaging (MRI) of the spine, which can delineate the lipoma and its relationship to the spinal cord. Management is primarily surgical, involving neurosurgical untethering of the spinal cord and debulking of the lipoma to prevent or halt neurological deterioration. The decision to operate on asymptomatic patients remains a subject of clinical debate, as surgery carries risks including re-tethering. Conservative management with close clinical and urological monitoring may be appropriate in selected cases. Early detection and multidisciplinary follow-up involving neurosurgery, urology, and rehabilitation are important for optimizing outcomes.

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Spinal cord lipoma.

View clinical trials →

No actively recruiting trials found for Spinal cord lipoma at this time.

New trials open frequently. Follow this disease to get notified.

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Specialists

15 foundView all specialists →
KS
K Selvakumar
WARREN, OH
Specialist
1 Spinal cord lipoma publication
MS
Martin U Schuhmann
Specialist
1 Spinal cord lipoma publication
MZ
Mazen Zeino
Specialist
1 Spinal cord lipoma publication
DB
D Balachandar
BRONX, NY
Specialist
1 Spinal cord lipoma publication
PN
P Bhaskar Naidu
Specialist
1 Spinal cord lipoma publication
PR
Prakash Regmi
Specialist
1 Spinal cord lipoma publication
BT
Bikas Thapa
Specialist
1 Spinal cord lipoma publication
SS
Sushil K Shilpakar
Specialist
1 Spinal cord lipoma publication
KL
Katharina Lutz
Specialist
1 Spinal cord lipoma publication
TM
Timothy Müller
Specialist
1 Spinal cord lipoma publication
SG
Sebastian Grunt
Specialist
1 Spinal cord lipoma publication
CS
Cordula Scherer
Specialist
1 Spinal cord lipoma publication
AP
Asmita Parajuli
CAMDEN, DE
Specialist
1 Spinal cord lipoma publication
KK
Khusbu Kumari
Specialist
1 Spinal cord lipoma publication
SK
Susmin Karki
Specialist
1 Spinal cord lipoma publication

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 Spinal cord lipoma.

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Community

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Latest news about Spinal cord lipoma

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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.

Common questions about Spinal cord lipoma

What is Spinal cord lipoma?

Spinal cord lipoma is a rare congenital malformation in which a benign fatty mass (lipoma) is located within or adjacent to the spinal cord, most commonly in the lumbosacral region. It is classified as a form of occult spinal dysraphism (closed neural tube defect), meaning the overlying skin is typically intact, though a subcutaneous fatty mass, skin dimple, dermal sinus, or hairy patch may be visible over the lower back. The lipoma is attached to or integrated into the spinal cord and its coverings, and it can cause tethering of the spinal cord, restricting its normal movement within the spin

How is Spinal cord lipoma inherited?

Spinal cord lipoma follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Which specialists treat Spinal cord lipoma?

15 specialists and care centers treating Spinal cord lipoma are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.