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lethal congenital contracture syndrome 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lethal congenital contracture syndrome 4

MONDO:0013965

Also known as:MYBPC1 lethal congenital contracture syndromelethal congenital contracture syndrome caused by mutation in MYBPC1lethal congenital contracture syndrome type 4

Overview

Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene.

GeneticsAutosomal recessive · MYBPC1 (chr 12)

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: Skeletal muscle atrophy, Flexion contracture, Distal arthrogryposis, and Multiple joint contractures and 1 more.

Organ System	Phenotype Count	Example Features
Muscles	4	Skeletal muscle atrophy, Flexion contracture, Distal arthrogryposis

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.

MYBPC1 encodes myosin binding protein C1 (1,141 aa). Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. Slow skeletal protein that binds to both myosin and actin. Highest expression in Muscle Skeletal (3,636 TPM) and Prostate (54.5 TPM).

Lethal congenital contracture syndrome 4 is associated with mutations in the MYBPC1 gene on chromosome 12.

MYBPC1 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for MYBPC1 is available. Testing is considered confirmatory for diagnosis.

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 congenital contracture syndrome 4.

5 publications have been identified in PubMed for lethal congenital contracture syndrome 4. Research spans Review / Meta-Analysis (60%) and Case Report / Case Series (40%).

Recent Publications

Sell LB (2026). [PMID: 41656591](https://pubmed.ncbi.nlm.nih.gov/41656591/). *Muscle Nerve*. [Review / Meta-Analysis]
Velardo D (2026). [PMID: 42211024](https://pubmed.ncbi.nlm.nih.gov/42211024/). *Front Genet*. [Case Report / Case Series]
Agerholm JS (2025). [PMID: 40899133](https://pubmed.ncbi.nlm.nih.gov/40899133/). *Reprod Domest Anim*. [Review / Meta-Analysis]
McAdam A (2025). [PMID: 39713852](https://pubmed.ncbi.nlm.nih.gov/39713852/). *Am J Med Genet A*. [Case Report / Case Series]
Illés A (2024). [PMID: 39062310](https://pubmed.ncbi.nlm.nih.gov/39062310/). *Children (Basel)*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614915

GARD

Genetic and Rare Diseases Info Center

GARD:12645

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 congenital contracture syndrome 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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