Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

lethal congenital contracture syndrome 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lethal congenital contracture syndrome 8

MONDO:0014570

Also known as:ADCY6 lethal congenital contracture syndromelethal congenital contracture syndrome caused by mutation in ADCY6lethal congenital contracture syndrome type 8

Overview

Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene.

GeneticsAutosomal recessive · ADCY6 (chr 12)

ResearchLimited published research (1 article)

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: Pes cavus, Distal amyotrophy, Feeding difficulties, and Distal arthrogryposis and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	3	Flexion contracture, Distal arthrogryposis, Low muscle tone (hypotonia)

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.

ADCY6 encodes adenylate cyclase 6 (1,168 aa). Catalyzes the formation of the signaling molecule cAMP downstream of G protein-coupled receptors. Highest expression in Artery Aorta (71.4 TPM) and Artery Coronary (66.2 TPM).

Lethal congenital contracture syndrome 8 is associated with mutations in the ADCY6 gene on chromosome 12.

ADCY6 is classified as a druggable target (Druggable Genome, Enzyme, and Kinase categories) with score 17.4.

5 pathogenic variants reported in ADCY6 in ClinVar.

Diagnosis

Genetic testing for ADCY6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 12 always present 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 8.

1 publication has been identified in PubMed for lethal congenital contracture syndrome 8. Research spans Review / Meta-Analysis (100%).

Recent Publications

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 18, 2026, 11:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616287

GARD

Genetic and Rare Diseases Info Center

GARD:18565

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?

← Back to All Diseases

lethal congenital contracture syndrome 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features