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Coverage: all available years, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Meester-Loeys Syndrome: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
A Family with Meester-Loeys Syndrome Caused by a Novel Missense Variant in the
Riancho José A et al., International journal of molecular sciences (15 December 2025)
https://pubmed.ncbi.nlm.nih.gov/41465473/
- 2.
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
Meester Josephina A N et al., NPJ genomic medicine (26 March 2024)
https://pubmed.ncbi.nlm.nih.gov/38531898/
- 3.
Generation of an induced pluripotent stem cell (iPSC) line (BBANTWi009-A) from a Meester-Loeys syndrome patient carrying a BGN mutation.
De Kinderen Pauline et al., Stem cell research (1 February 2023)
https://pubmed.ncbi.nlm.nih.gov/36599284/
- 4.
Meester-Loeys Syndrome.
Meester Josephina A N et al., Advances in experimental medicine and biology (1 January 2021)
https://pubmed.ncbi.nlm.nih.gov/34807424/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Meester-Loeys Syndrome
Meester-Loeys syndrome is a very rare inherited connective tissue disorder caused by changes in the BGN gene on the X chromosome. It can widen and tear the main artery leaving the heart, and may also affect the face, skeleton, joints and skin, with boys usually more severely affected. Care involves regular heart and artery imaging, blood pressure lowering medicines and surgery to repair the aorta when needed.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Meester-Loeys Syndrome is very rare and little research has been published, so this page includes research from every year, including case reports about individual patients. Case reports are marked, and describe one person's experience rather than tested results.
Most Recent Research
Meester-Loeys syndrome (MLS) is an X-linked connective tissue disorder caused by pathogenic BGN variants. We describe a family carrying a novel missense variant. The index male, initially diagnosed with Ehlers-Danlos syndrome, had joint hypermobility, multiple visceral artery aneurysms, and recurrent musculoskeletal problems. A brother of the proband had an aortic root aneurysm. Female carriers had no or only minor manifestations. Studies of the aortic wall were consistent with a dysregulation of the TGF-β/SMAD pathway and assays with reporter vectors revealed reduced canonical Wnt and TGF-β activity in cell lines expressing mutant biglycan. However, patients' dermal fibroblasts did not show consistent differences in the nuclear abundance of β-catenin or p-SMAD2/3 compared to cells from controls. This 3-generation family expands the genetic and phenotypic spectrum of MLS and underscores the importance of considering BGN testing in hypermobility syndromes to enable early surveillance and targeted management.
Common Questions
What is Meester-Loeys Syndrome?
Meester-Loeys syndrome is a very rare inherited connective tissue disorder caused by changes in the BGN gene on the X chromosome. It can widen and tear the main artery leaving the heart, and may also affect the face, skeleton, joints and skin, with boys usually more severely affected. Care involves regular heart and artery imaging, blood pressure lowering medicines and surgery to repair the aorta when needed.
How many clinical trials are available for Meester-Loeys Syndrome?
No clinical trials are currently indexed for Meester-Loeys Syndrome. This may change as new trials are registered. Check back regularly or visit ClinicalTrials.gov directly.
Where does the research data for Meester-Loeys Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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