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lethal congenital contracture syndrome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lethal congenital contracture syndrome 1

MONDO:0009670

Also known as:GLE1 lethal congenital contracture syndromeHerva diseaseLCCS1

Overview

Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.

GeneticsAutosomal recessive · GLE1 (chr 9)

ResearchLimited published research (2 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 very common findings: Hypertelorism, Abnormal hip bone morphology, and Short stature; and common findings: Posteriorly rotated ears, Webbed neck, Short neck, and Abnormal rib morphology and others. 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	7	Skeletal muscle atrophy, Limitation of joint mobility, Recurrent fractures

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.

GLE1 encodes GLE1 RNA export mediator (698 aa). Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. May be involved in the terminal step of the mRNA transport through the nuclear pore complex (NPC) Highest expression in Testis (66.4 TPM) and Cells EBV-transformed lymphocytes (52.3 TPM).

Lethal congenital contracture syndrome 1 is associated with mutations in the GLE1 gene on chromosome 9.

GLE1 is classified as a druggable target (Transporter category) with score 26.1.

Diagnosis

Genetic testing for GLE1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for lethal congenital contracture syndrome 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 very common features, 11 common features.

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 1.

2 publications have been identified in PubMed for lethal congenital contracture syndrome 1. Research spans Diagnostic / Biomarker (50%) and Basic Science / Preclinical (50%).

Recent Publications

Zárybnický T (2025). [PMID: 40674274](https://pubmed.ncbi.nlm.nih.gov/40674274/). *The FEBS journal*. [Basic Science / Preclinical]
Rajala K (2025). [PMID: 39674903](https://pubmed.ncbi.nlm.nih.gov/39674903/). *Prenatal diagnosis*. [Diagnostic / Biomarker]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 11:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:253310

Orphanet

European rare disease database

Orphanet:1486

GARD

Genetic and Rare Diseases Info Center

GARD:3227

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 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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