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lethal congenital contracture syndrome 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lethal congenital contracture syndrome 11

MONDO:0014965

Also known as:GLDN lethal congenital contracture syndromeLCCS11lethal congenital contracture syndrome 11; LCCS11

Overview

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

GeneticsAutosomal recessive · GLDN (chr 15)

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 always present findings: Polyhydramnios and Decreased fetal movement; and very common findings: Pulmonary hypoplasia. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	4	Flexion contracture, Distal arthrogryposis, Flexion contracture of finger

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.

GLDN encodes gliomedin (551 aa). Ligand for NRCAM and NFASC/neurofascin that plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Highest expression in Nerve Tibial (48.6 TPM) and Brain Spinal cord cervical c-1 (40.5 TPM).

Lethal congenital contracture syndrome 11 is caused by mutations in the GLDN gene on chromosome 15.

GLDN is classified as a druggable target (Cell Surface category) with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 1 common feature.

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 11.

5 publications have been identified in PubMed for lethal congenital contracture syndrome 11. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (40%), and Epidemiology / Natural History (20%).

Recent Publications

Wang P (2026). [PMID: 41903161](https://pubmed.ncbi.nlm.nih.gov/41903161/). *Prenat Diagn*. [Case Report / Case Series]
Jiang Y (2026). [PMID: 41108211](https://pubmed.ncbi.nlm.nih.gov/41108211/). *Prenat Diagn*. [Epidemiology / Natural History]
McAdam A (2025). [PMID: 39713852](https://pubmed.ncbi.nlm.nih.gov/39713852/). *Am J Med Genet A*. [Case Report / Case Series]
Pérez-Vidarte F (2025). [PMID: 40443119](https://pubmed.ncbi.nlm.nih.gov/40443119/). *Ann Clin Transl Neurol*. [Review / Meta-Analysis]
Illés A (2024). [PMID: 39062310](https://pubmed.ncbi.nlm.nih.gov/39062310/). *Children (Basel)*. [Review / Meta-Analysis]

Data assembled from 6 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:617194

GARD

Genetic and Rare Diseases Info Center

GARD:13220

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 11

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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