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congenital infiltrating lipomatosis of the face (CIL-F) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital infiltrating lipomatosis of the face

MONDO:0035592

Also known as:CIL-Ffacial infused lipomatosisfibroadipose infiltrating lipomatosis

Overview

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Facial asymmetry; and common findings: Macroglossia, Full cheeks, Mandibular prognathia, and Advanced eruption of teeth and others. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Facial asymmetry, Mandibular prognathia, Hyperplasia of the maxilla

Diagnosis

Biomarker and diagnostic research for congenital infiltrating lipomatosis of the face has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 9 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 congenital infiltrating lipomatosis of the face.

6 publications have been identified in PubMed for congenital infiltrating lipomatosis of the face. Research spans Case Report / Case Series (83%) and Diagnostic / Biomarker (17%).

Recent Publications

Fenech M (2026). [PMID: 41348555](https://pubmed.ncbi.nlm.nih.gov/41348555/). *Orbit*. [Case Report / Case Series]
Moreno SD (2025). [PMID: 39724639](https://pubmed.ncbi.nlm.nih.gov/39724639/). *J Craniofac Surg*. [Case Report / Case Series]
Singh R (2024). [PMID: 39497910](https://pubmed.ncbi.nlm.nih.gov/39497910/). *J Oral Biol Craniofac Res*. [Case Report / Case Series]
Rattan V (2024). [PMID: 38830084](https://pubmed.ncbi.nlm.nih.gov/38830084/). *J Craniofac Surg*. [Case Report / Case Series]
Xu GS (2024). [PMID: 38395686](https://pubmed.ncbi.nlm.nih.gov/38395686/). *Int J Oral Maxillofac Surg*. [Diagnostic / Biomarker]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:583097

GARD

Genetic and Rare Diseases Info Center

GARD:22333

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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congenital infiltrating lipomatosis of the face

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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