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
Clinical Trial Eligibility Tips
What to know before applying to Weill-Marchesani Syndrome trials.
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.
Patient Resources
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