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nasopalpebral lipoma-coloboma syndrome (NPLCS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nasopalpebral lipoma-coloboma syndrome

MONDO:0008182

Also known as:NPLCSpalpebral coloboma lipoma syndrome

Overview

Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.

GeneticsAutosomal dominant

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: Epiphora, Ectopic lacrimal punctum, Wide nasal bridge, and Absent lacrimal punctum and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	1	Conjunctival hyperemia
Brain and nerves

Prognosis

Phenotype severity distribution: 20 always present features.

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

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:167730

Orphanet

European rare disease database

Orphanet:2399

GARD

Genetic and Rare Diseases Info Center

GARD:3927

Questions for Your Care Team

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nasopalpebral lipoma-coloboma syndrome

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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