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lymphatic malformation - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lymphatic malformation

MONDO:0019313

Also known as:hereditary lymphedemalymphedema, hereditary

Find Clinical TrialsTrials

Overview

Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation.

OnsetJUVENILE, CONGENITAL, ANTENATAL

Clinical Trials16 registered · 12 recruiting

Patient Orgs1 organizations · Lymphatic Malformation Institute

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.

No HPO annotations are available for this condition.

Age of onset: adolescence, at birth, before birth.

GeneReviews

Clinical Guidance

Lymphedema-distichiasis syndrome (LDS) is characterized by lymphedema with onset in late childhood or puberty and is confined to the lower limbs and/or genitalia. Varicose veins are a frequent association and may develop before the onset of the lymphedema. Distichiasis, which may be present at birth, can be associated with ocular problems such as corneal irritation, recurrent conjunctivitis, and photophobia. Congenital ptosis involving one or both eyes may be present. Other less common findings include congenital heart disease, cleft palate, webbed neck, and renal anomalies. Severity varies within and between families, with some affected neonates presenting with hydrops fetalis. Lymphedema is present in most individuals with LDS.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Lymphedema-distichiasis syndrome (LDS) should be suspected in individuals with the following clinical findings:

Source: GeneReviews — "Lymphedema-Distichiasis Syndrome"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for lymphatic malformation. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs of in an individual diagnosed with lymphedema-distichiasis syndrome (LDS), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Lymphedema-Distichiasis Syndrome

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 4. Recommended Surveillance for Individuals with Lymphedema-Distichiasis Syndrome

System/Concern

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.

16 clinical trials registered, 12 recruiting. Interventions under study include drug therapy, other interventions, procedural interventions, and biologic therapy. Pipeline includes 1 PHASE4, 3 PHASE3, 8 PHASE2. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT02399527](https://clinicaltrials.gov/study/NCT02399527)

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:45 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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Lymphatic Malformation InstitutePrimary Focus

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Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

GARD

Genetic and Rare Diseases Info Center

GARD:13057

Questions for Your Care Team

→Are any of the 16 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with Lymphatic Malformation Institute and other patient organizations for support?

← Back to All Diseases

System/Concern	Evaluation	Comment
Eyes	Ophthalmologic eval	Slit lamp eval for distichiasis related problems of corneal irritation, recurrent conjunctivitis, photophobia; Assess for ptosis.; Assess for strabismus.
Lymphedema	Physical exam of lower legs to document presence of lymphedema any evidence of cellulitis	Isotope lymphoscintigraphy to detect lymphatic weakness before onset of swelling
Vascular	Physical exam of varicose veins w/young onset (adolescence / early adulthood)	Venous duplex scans
Cleft palate	Assess for cleft palate or Pierre Robin sequence.	—
Cardiovascular	Assess for congenital heart defects.	Echocardiogram; Further eval if clinical evidence suggests arrhythmias
Spine	Assess for spinal extradural arachnoid cyst.	Cysts can result in fluctuating symptoms (e.g., when enlarged, they may compress the root or cord result in pain or weakness).; Spinal MRI if symptomatic Assess for scoliosis.
Renal	Renal ultrasound eval	Assess for renal anomalies. Miscellaneous/
Other	Consultation w/clinical geneticist /or genetic counselor	Treatment of Manifestations; Conservative management of symptomatic distichiasis with lubrication or epilation (plucking), or more definitive management with cryotherapy, electrolysis, or lid splitting . Recurrence is possible even with more definitive treatment. Lymphedema.
Recommended Surveillance for Individuals with Lymphedema-Distichiasis Syndrome System/Concern	Evaluation	Frequency
Eyes	Slit lamp exam of the eyes	As required for control of symptoms from distichiasis
Lymphedema	Lymphoscintigraphy at diagnosis, then clinical assessment	1-2x/yr, but regular lymphedema therapy (every 6 mos)1
Varicose veins	Clinical assessment	1-2x/yr
Cleft palate	Per craniofacial team	—
Cardiovascular	Per cardiologist	—
Spine	Investigate w/spine MRI; only if symptomatic.	—
Renal	Per treating nephrologist/urologist	1. See fact sheet for more information. Evaluation of Relatives at Risk See for issues related to testing of at-risk relatives for genetic counseling purposes. Edema may be exacerbated during pregnancy, but often improves after delivery.

Research Type	Count	% of Total
Patient case studies	150	58%
Research summaries	28	11%
Laboratory research	24	9%
Disease patterns and progression	20	8%
Clinical study results	18	7%
New treatment approaches	9	3%
Testing and diagnosis research	8	3%
Other research	2	1%

Kisho

lymphatic malformation

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Milroy disease

Therapies Under Investigation

Clinical Trials

Recent Publications

lymphatic malformation

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

GARD

Subtypes

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Milroy disease

Therapies Under Investigation

Clinical Trials

Recent Publications