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lethal Larsen-like syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lethal Larsen-like syndrome

MONDO:0009512

Also known as:Larsen-like multiple joint dislocation syndromeLarsen-like syndrome, lethal type

Overview

Larsen-like syndrome, lethal type, is characterized by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out.

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: Pulmonary hypoplasia, Multiple joint dislocation, Joint dislocation, and Abnormality of metabolism/homeostasis and 5 more.

Organ System	Phenotype Count	Example Features
Lungs and breathing	2	Pulmonary hypoplasia, Difficulty breathing (respiratory insufficiency)

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 lethal Larsen-like syndrome.

5 publications have been identified in PubMed for lethal Larsen-like syndrome. Research spans Review / Meta-Analysis (40%), Gene Therapy / Novel Therapeutics (40%), and Case Report / Case Series (20%).

Recent Publications

Arrigo A (2026). [PMID: 41674076](https://pubmed.ncbi.nlm.nih.gov/41674076/). *HGG Adv*. [Gene Therapy / Novel Therapeutics]
Tsujioka Y (2026). [PMID: 42094029](https://pubmed.ncbi.nlm.nih.gov/42094029/). *Mol Syndromol*. [Review / Meta-Analysis]
Arrigo A (2025). [PMID: 41279393](https://pubmed.ncbi.nlm.nih.gov/41279393/). *bioRxiv*. [Gene Therapy / Novel Therapeutics]
El Gazzane S (2025). [PMID: 40144631](https://pubmed.ncbi.nlm.nih.gov/40144631/). *Clin Med Insights Case Rep*. [Case Report / Case Series]
Ouidja MO (2024). [PMID: 39630030](https://pubmed.ncbi.nlm.nih.gov/39630030/). *Essays Biochem*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:245650

Orphanet

European rare disease database

Orphanet:2371

GARD

Genetic and Rare Diseases Info Center

GARD:3181

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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lethal Larsen-like 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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