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lethal congenital contracture syndrome 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lethal congenital contracture syndrome 7

MONDO:0014569

Also known as:CNTNAP1 lethal congenital contracture syndromelethal congenital contracture syndrome caused by mutation in CNTNAP1lethal congenital contracture syndrome type 7

Overview

Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene.

GeneticsAutosomal recessive · CNTNAP1 (chr 17)

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: Distal arthrogryposis and Fetal akinesia sequence; and sometimes findings: Micrognathia. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	7	Skeletal muscle atrophy, Brain shrinkage (cerebral atrophy), Shrinkage of the cerebellum (cerebellar 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.

CNTNAP1 encodes contactin associated protein 1 (1,384 aa). Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Highest expression in Brain Cerebellum (163.9 TPM) and Brain Cerebellar Hemisphere (141.0 TPM).

Lethal congenital contracture syndrome 7 is associated with mutations in the CNTNAP1 gene on chromosome 17.

CNTNAP1 is classified as a druggable target (Druggable Genome and Fibrinogen categories) with score 0.0.

Diagnosis

Genetic testing for CNTNAP1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 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 7.

5 publications have been identified in PubMed for lethal congenital contracture syndrome 7. Research spans Review / Meta-Analysis (60%), Other (20%), and Case Report / Case Series (20%).

Recent Publications

Zhao M (2026). [PMID: 41989346](https://pubmed.ncbi.nlm.nih.gov/41989346/). *Technol Health Care*. [Review / Meta-Analysis]
Sell LB (2026). [PMID: 41656591](https://pubmed.ncbi.nlm.nih.gov/41656591/). *Muscle Nerve*. [Review / Meta-Analysis]
Jacinto J (2025). [PMID: 40999323](https://pubmed.ncbi.nlm.nih.gov/40999323/). *Genet Sel Evol*. [Other]
Illés A (2024). [PMID: 39062310](https://pubmed.ncbi.nlm.nih.gov/39062310/). *Children (Basel)*. [Review / Meta-Analysis]
Wang H (2024). [PMID: 39583069](https://pubmed.ncbi.nlm.nih.gov/39583069/). *SAGE Open Med Case Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:20 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616286

GARD

Genetic and Rare Diseases Info Center

GARD:18564

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 7

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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