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lung agenesis-heart defect-thumb anomalies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lung agenesis-heart defect-thumb anomalies syndrome

MONDO:0011116

Also known as:Mardini-Nyhan syndromeLACHTManouvrier syndrome

Overview

Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.

GeneticsAutosomal recessive

ResearchLimited published research (5 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: Abnormal cardiac septum morphology, Coarctation of aorta, Abnormal cardiovascular system morphology, and Difficulty breathing (respiratory insufficiency) and 3 more.

Organ System	Phenotype Count	Example Features
Lungs and breathing	2	Difficulty breathing (respiratory insufficiency), Bilateral lung agenesis

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 lung agenesis-heart defect-thumb anomalies syndrome.

5 publications have been identified in PubMed for lung agenesis-heart defect-thumb anomalies syndrome. Research spans Case Report / Case Series (60%), Epidemiology / Natural History (20%), and Gene Therapy / Novel Therapeutics (20%).

Recent Publications

Mukherjee TG (2025). [PMID: 40827187](https://pubmed.ncbi.nlm.nih.gov/40827187/). *Cureus*. [Case Report / Case Series]
Poudel S (2025). [PMID: 39559497](https://pubmed.ncbi.nlm.nih.gov/39559497/). *Radiol Case Rep*. [Case Report / Case Series]
Mukherjee TG (2025). [PMID: 41049903](https://pubmed.ncbi.nlm.nih.gov/41049903/). *Cureus*. [Case Report / Case Series]
Boudet-Berquier J (2024). [PMID: 38671254](https://pubmed.ncbi.nlm.nih.gov/38671254/). *Eur J Epidemiol*. [Epidemiology / Natural History]
Vanlerberghe C (2024). [PMID: 39268718](https://pubmed.ncbi.nlm.nih.gov/39268718/). *Genet Med*. [Gene Therapy / Novel Therapeutics]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601612

Orphanet

European rare disease database

Orphanet:1120

GARD

Genetic and Rare Diseases Info Center

GARD:3378

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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lung agenesis-heart defect-thumb anomalies syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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