Connective Tissue
Weill-Marchesani Syndrome
Also known as spherophakia-brachymorphia syndrome, WMS
Weill-Marchesani syndrome is a rare connective tissue disorder characterised by the opposite phenotype to Marfan syndrome: short stature, brachydactyly, joint stiffness, and microspherophakia — an abnormally small, spherical lens. The displ
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studies recruiting now
as of 7 Sept 2026
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studies registered in total
as of 7 Sept 2026
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countries with a recruiting site
as of 7 Sept 2026
None
recruiting study posted to date
among recruiting studies
Recruiting trials
No registered studies found for Weill-Marchesani Syndrome.
ClinicalTrials.gov has no study listed under this name as of 7 Sept 2026. That can change, and there are other routes worth knowing about.
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About Weill-Marchesani Syndrome
Weill-Marchesani syndrome is a rare connective tissue disorder characterised by the opposite phenotype to Marfan syndrome: short stature, brachydactyly, joint stiffness, and microspherophakia — an abnormally small, spherical lens. The displaced spherical lens frequently causes secondary glaucoma and severe myopia, representing the most serious complications requiring urgent ophthalmological management. The autosomal dominant form caused by FBN1 mutations overlaps clinically with Marfan syndrome, whereas the autosomal recessive form (ADAMTS10) typically presents with a more severe systemic phenotype.
Common clinical features
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Weill-Marchesani Syndrome. Not eligibility rules; those are set by each study.
- Ophthalmological records including slit-lamp examination, lens position documentation, and IOP history are essential baseline documents for any trial involving ocular endpoints.
- Height, weight, and hand anthropometry measurements (metacarpal index) may be required to confirm phenotypic diagnosis if genetic confirmation is pending.
- Confirm current glaucoma treatment and intraocular pressure control, as uncontrolled IOP may be an exclusion criterion in some trials.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).