Features include always present findings: Epicanthus, Irregular dentition, Microtia, and Hypertelorism and others; and very common findings: Depressed nasal bridge. 20 total HPO annotations.

FAT4 encodes FAT atypical cadherin 4 (4,981 aa). Cadherins are calcium-dependent cell adhesion proteins. Highest expression in Cells Cultured fibroblasts (21.5 TPM) and Artery Tibial (16.6 TPM).

Hennekam lymphangiectasia-lymphedema syndrome 2 is associated with mutations in the FAT4 gene on chromosome 4.

FAT4 is classified as a druggable target (Druggable Genome category) with score 0.0.

Genetic testing for FAT4 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 5 always present features, 1 very common feature, 6 common features.

No clinical trials have been registered for Hennekam lymphangiectasia-lymphedema syndrome 2.

5 publications have been identified in PubMed for Hennekam lymphangiectasia-lymphedema syndrome 2. 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]

• Zhao Q (2025). [PMID: 40766782](https://pubmed.ncbi.nlm.nih.gov/40766782/). *Frontiers in cell and developmental biology*. [Basic Science / Preclinical]

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

• Durak T (2024). [PMID: 38441203](https://pubmed.ncbi.nlm.nih.gov/38441203/). *Clinical dysmorphology*. [Case Report / Case Series]