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congenital pulmonary lymphangiectasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital pulmonary lymphangiectasia

MONDO:0009933

Also known as:Diffuse Pulmonary Lymphangiomatosiscongenital pulmonary lymphangiectasispulmonary lymphangiomatosis

Overview

Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.

GeneticsAutosomal recessive

OnsetANTENATAL, CONGENITAL

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: Nonimmune hydrops fetalis, Chylothorax, Pulmonary lymphangiectasia, and Bronchodysplasia and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	4	Pleural effusion, Pulmonary lymphangiectasia, Recurrent respiratory infections

Prognosis

Phenotype severity distribution: 5 always present features.

Estimated prevalence: Unknown (Unknown prevalence).

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:265300

Orphanet

European rare disease database

Orphanet:2414

GARD

Genetic and Rare Diseases Info Center

GARD:9900

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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congenital pulmonary lymphangiectasia

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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