Features include always present findings: Relative macrocephaly and Enlarged brain ventricles (ventriculomegaly); and very common findings: Aortic root aneurysm, Downslanted palpebral fissures, Joint hypermobility, and Malar flattening. 33 total HPO annotations.

BGN encodes biglycan (368 aa). May be involved in collagen fiber assembly Highest expression in Artery Aorta (8,167 TPM) and Artery Coronary (4,160 TPM).

Meester-Loeys syndrome is associated with mutations in the BGN gene on chromosome X.

BGN is classified as a druggable target (Cell Surface and Druggable Genome categories) with score 26.1.

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

Phenotype severity distribution: 2 always present features, 4 very common features, 17 common features.

No clinical trials have been registered for Meester-Loeys syndrome.

2 publications have been identified in PubMed for Meester-Loeys syndrome. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

• Riancho JA (2025). [PMID: 41465473](https://pubmed.ncbi.nlm.nih.gov/41465473/). *Int J Mol Sci*. [Case Report / Case Series]

• Barkhordarian M (2024). [PMID: 38948412](https://pubmed.ncbi.nlm.nih.gov/38948412/). *World J Exp Med*. [Review / Meta-Analysis]