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lethal multiple pterygium syndrome (LMPS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lethal multiple pterygium syndrome

MONDO:0009668

Also known as:LMPSautosomal recessive lethal multiple pterygium syndromemultiple pterygium syndrome lethal type

Overview

Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.

GeneticsAutosomal recessive · 3 genes (CHRNA1, CHRND, CHRNG)

ResearchLimited published research (8 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: Epicanthus, Malignant hyperthermia, Pulmonary hypoplasia, and Flexion contracture and 21 more.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Joint dislocation, Increased susceptibility to fractures, Vertebral fusion

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CHRNA1

CHRNA1 encodes cholinergic receptor nicotinic alpha 1 subunit (457 aa). Upon acetylcholine binding, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane Highest expression in Muscle Skeletal (29.9 TPM) and Pituitary (1.9 TPM).

Lethal multiple pterygium syndrome is associated with mutations in the CHRNA1 gene on chromosome 2.

The CHRNA1 protein participates in CHRNA9:CHRNA10:AcCho transports Ca2+ from the extracellular region to the cytosol pathway.

CHRNA1 is classified as a druggable target (Cell Surface, Druggable Genome, and Ion Channel categories) with score 2.5.

CHRND

CHRND encodes cholinergic receptor nicotinic delta subunit (517 aa). After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane Highest expression in Muscle Skeletal (48.1 TPM) and Testis (0.6 TPM).

Diagnosis

Genetic testing for CHRNA1, CHRND, CHRNG is available. Testing is considered confirmatory for diagnosis.

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 multiple pterygium syndrome.

8 publications have been identified in PubMed for lethal multiple pterygium syndrome. Research spans Case Report / Case Series (63%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (13%).

Recent Publications

Fabregas A (2026). [PMID: 41774532](https://pubmed.ncbi.nlm.nih.gov/41774532/). *Journal of pediatric orthopedics*. [Case Report / Case Series]
Kido J (2026). [PMID: 41826296](https://pubmed.ncbi.nlm.nih.gov/41826296/). *Hum Genome Var*. [Basic Science / Preclinical]
Zhu X (2025). [PMID: 40797438](https://pubmed.ncbi.nlm.nih.gov/40797438/). *Medicine*. [Case Report / Case Series]
Haliloğlu G (2025). [PMID: 40356365](https://pubmed.ncbi.nlm.nih.gov/40356365/). *Journal of neuromuscular diseases*. [Review / Meta-Analysis]
Jackson M (2024). [PMID: 38520674](https://pubmed.ncbi.nlm.nih.gov/38520674/). *Prenatal diagnosis*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 8:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:253290

Orphanet

European rare disease database

Orphanet:33108

GARD

Genetic and Rare Diseases Info Center

GARD:3834

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 multiple pterygium syndrome

Overview

Clinical Presentation

Genetic Landscape

CHRNA1

CHRND

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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CHRNG