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lymphedema-atrial septal defects-facial changes syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lymphedema-atrial septal defects-facial changes syndrome

MONDO:0011166

Also known as:Irons-Bhan syndromeIrons-Bianchi syndromeautosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes

Overview

Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.

GeneticsAutosomal recessive

OnsetCONGENITAL

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: Epicanthus, Oligohydramnios, Upslanted palpebral fissure, and Delayed speech and language development and 18 more.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	Ventricular septal defect, Atrial flutter, Atrial septal defect

Diagnosis

Biomarker and diagnostic research for lymphedema-atrial septal defects-facial changes syndrome has been reported in the published literature.

Prognosis

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 lymphedema-atrial septal defects-facial changes syndrome.

190 publications have been identified in PubMed for lymphedema-atrial septal defects-facial changes syndrome. Research spans Review / Meta-Analysis (46%), Case Report / Case Series (18%), and Other (16%).

Research Type	Count	% of Total
Research summaries	88	46%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601927

Orphanet

European rare disease database

Orphanet:86915

GARD

Genetic and Rare Diseases Info Center

GARD:284

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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Kisho

lymphedema-atrial septal defects-facial changes syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

lymphedema-atrial septal defects-facial changes syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications