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lipomyelomeningocele - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lipomyelomeningocele

MONDO:0012296

Also known as:familial lipomyelomeningocele

Overview

Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.

Diagnosis

Biomarker and diagnostic research for lipomyelomeningocele has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for lipomyelomeningocele.

37 publications have been identified in PubMed for lipomyelomeningocele. Research spans Case Report / Case Series (41%), Epidemiology / Natural History (27%), and Review / Meta-Analysis (8%).

Research Type	Count	% of Total
Patient case studies	15	41%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 12:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609537

Orphanet

European rare disease database

Orphanet:268835

GARD

Genetic and Rare Diseases Info Center

GARD:10053

Questions for Your Care Team

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lipomyelomeningocele

Overview

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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