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isolated transitional filum lipoma - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated transitional filum lipoma

MONDO:0958346

Overview

A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There are no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma.

ResearchLimited published research (4 articles)

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 isolated transitional filum lipoma.

4 publications have been identified in PubMed for isolated transitional filum lipoma. Research spans Review / Meta-Analysis (50%), Clinical Trial Publication (25%), and Epidemiology / Natural History (25%).

Recent Publications

Dhombres F (2025). [PMID: 40629359](https://pubmed.ncbi.nlm.nih.gov/40629359/). *Orphanet journal of rare diseases*. [Review / Meta-Analysis]
Palombi D (2025). [PMID: 41339540](https://pubmed.ncbi.nlm.nih.gov/41339540/). *Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery*. [Epidemiology / Natural History]
Yang S (2025). [PMID: 39556851](https://pubmed.ncbi.nlm.nih.gov/39556851/). *International braz j urol : official journal of the Brazilian Society of Urology*. [Clinical Trial Publication]
Roynard P (2025). [PMID: 40201081](https://pubmed.ncbi.nlm.nih.gov/40201081/). *Frontiers in veterinary science*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 6:18 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:645322

Questions for Your Care Team

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isolated transitional filum lipoma

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team