Features include always present findings: Polyhydramnios, Strabismus, Protein-losing enteropathy, and Hydrocele testis and others; and common findings: Upslanted palpebral fissure, Anteverted nares, Migraine, and Feeding difficulties and others.

ADAMTS3 encodes ADAM metallopeptidase with thrombospondin type 1 motif 3 (1,205 aa). Cleaves the propeptides of type II collagen prior to fibril assembly. Does not act on types I and III collagens Highest expression in Fallopian Tube (5.8 TPM) and Breast Mammary Tissue (3.7 TPM).

Hennekam lymphangiectasia-lymphedema syndrome 3 is associated with mutations in the ADAMTS3 gene on chromosome 4.

ADAMTS3 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 0.0.

5 pathogenic variants reported in ADAMTS3 in ClinVar.

Genetic testing for ADAMTS3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features, 7 common features.

No clinical trials have been registered for hennekam lymphangiectasia-lymphedema syndrome 3.

5 publications have been identified in PubMed for hennekam lymphangiectasia-lymphedema syndrome 3. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (40%), and Epidemiology / Natural History (20%).

Recent Publications

• Mascarenhas S (2026). [PMID: 41992670](https://pubmed.ncbi.nlm.nih.gov/41992670/). *Am J Med Genet A*. [Basic Science / Preclinical]

• Zhang R (2025). [PMID: 40394495](https://pubmed.ncbi.nlm.nih.gov/40394495/). *BMC cardiovascular disorders*. [Case Report / Case Series]

• Brenner E (2025). [PMID: 41439975](https://pubmed.ncbi.nlm.nih.gov/41439975/). *Cells*. [Epidemiology / Natural History]

• Feiskhanov A (2025). [PMID: 39691059](https://pubmed.ncbi.nlm.nih.gov/39691059/). *Clinical genetics*. [Basic Science / Preclinical]

• Woolley SA (2024). [PMID: 39409761](https://pubmed.ncbi.nlm.nih.gov/39409761/). *Animals : an open access journal from MDPI*. [Case Report / Case Series]