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A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
No clinical trials have been registered for lethal congenital contracture syndrome.
12 publications have been identified in PubMed for lethal congenital contracture syndrome. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Epidemiology / Natural History (17%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 6 | 50% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 1:00 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Research summaries
3 |
25% |
Disease patterns and progression | 2 | 17% |
Laboratory research | 1 | 8% |
Jacob M (2026). [PMID: 40497796](https://pubmed.ncbi.nlm.nih.gov/40497796/). *Brain : a journal of neurology*. [Basic Science / Preclinical]
Wang P (2026). [PMID: 41903161](https://pubmed.ncbi.nlm.nih.gov/41903161/). *Prenat Diagn*. [Case Report / Case Series]
Sell LB (2026). [PMID: 41656591](https://pubmed.ncbi.nlm.nih.gov/41656591/). *Muscle & nerve*. [Case Report / Case Series]
Velardo D (2026). [PMID: 42211024](https://pubmed.ncbi.nlm.nih.gov/42211024/). *Front Genet*. [Case Report / Case Series]
Zhao M (2026). [PMID: 41989346](https://pubmed.ncbi.nlm.nih.gov/41989346/). *Technol Health Care*. [Review / Meta-Analysis]
Jacinto J (2025). [PMID: 40999323](https://pubmed.ncbi.nlm.nih.gov/40999323/). *Genetics, selection, evolution : GSE*. [Epidemiology / Natural History]
McAdam A (2025). [PMID: 39713852](https://pubmed.ncbi.nlm.nih.gov/39713852/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Zárybnický T (2025). [PMID: 40674274](https://pubmed.ncbi.nlm.nih.gov/40674274/). *The FEBS journal*. [Epidemiology / Natural History]
Haliloğlu G (2025). [PMID: 40356365](https://pubmed.ncbi.nlm.nih.gov/40356365/). *Journal of neuromuscular diseases*. [Case Report / Case Series]
Perrain V (2025). [PMID: 40752141](https://pubmed.ncbi.nlm.nih.gov/40752141/). *Neuromuscular disorders : NMD*. [Review / Meta-Analysis]