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Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for hydrolethalus syndrome.
9 publications have been identified in PubMed for hydrolethalus syndrome. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (44%), and Review / Meta-Analysis (11%).
Pedraza M (2025). [PMID: 40956303](https://pubmed.ncbi.nlm.nih.gov/40956303/). *eLife*. [Basic Science / Preclinical]
Curinha A (2025). [PMID: 40009365](https://pubmed.ncbi.nlm.nih.gov/40009365/). *The Journal of cell biology*. [Basic Science / Preclinical]
Belengeanu V (2025). [PMID: 39857086](https://pubmed.ncbi.nlm.nih.gov/39857086/). *Diagnostics (Basel, Switzerland)*. [Case Report / Case Series]
Bouchenafa R (2024). [PMID: 38646780](https://pubmed.ncbi.nlm.nih.gov/38646780/). *American journal of physiology. Cell physiology*. [Review / Meta-Analysis]
Orlova M (2024). [PMID: 39092430](https://pubmed.ncbi.nlm.nih.gov/39092430/). *Frontiers in genetics*. [Basic Science / Preclinical]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:41 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Ruiz-Matos SJ (2024). [PMID: 39036105](https://pubmed.ncbi.nlm.nih.gov/39036105/). *Cureus*. [Case Report / Case Series]
Gana S (2024). [PMID: 39626953](https://pubmed.ncbi.nlm.nih.gov/39626953/). *Journal of medical genetics*. [Case Report / Case Series]
Deconte D (2024). [PMID: 39063141](https://pubmed.ncbi.nlm.nih.gov/39063141/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Daigavane P (2024). [PMID: 38779256](https://pubmed.ncbi.nlm.nih.gov/38779256/). *Cureus*. [Case Report / Case Series]