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lethal congenital contracture syndrome 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lethal congenital contracture syndrome 9

MONDO:0014670

Also known as:ADGRG6 lethal congenital contracture syndromelethal congenital contracture syndrome caused by mutation in ADGRG6lethal congenital contracture syndrome type 9

Overview

Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.

GeneticsAutosomal recessive · ADGRG6 (chr 6)

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 always present findings: Joint stiffness present at birth (arthrogryposis multiplex congenita); and common findings: Polyhydramnios, Talipes equinovarus, Decreased fetal movement, and Intrauterine growth retardation and others. 32 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	10	Myopathy, Flexion contracture, Muscle fiber atrophy

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.

ADGRG6 encodes adhesion G protein-coupled receptor G6 (1,221 aa). Adhesion G-protein coupled receptor (aGPCR) for steroid hormones, such as progesterone and 17alpha-hydroxyprogesterone (17OHP). Highest expression in Lung (20.2 TPM) and Nerve Tibial (20.0 TPM).

Lethal congenital contracture syndrome 9 is associated with mutations in the ADGRG6 gene on chromosome 6.

The ADGRG6 protein participates in SOX10-dependent POU3F1 gene expression pathway.

ADGRG6 is classified as a druggable target (Cell Surface, Druggable Genome, and G Protein Coupled Receptor categories) with score 0.0.

7 pathogenic variants reported in ADGRG6 in ClinVar.

Diagnosis

Genetic testing for ADGRG6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 6 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 9.

3 publications have been identified in PubMed for lethal congenital contracture syndrome 9. Kisho has analyzed 2 by research type. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Perrain V (2025). [PMID: 40752141](https://pubmed.ncbi.nlm.nih.gov/40752141/). *Neuromuscul Disord*. [Case Report / Case Series]
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, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616503

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 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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