Weill-Marchesani Syndrome, Autosomal Recessive

Known as: MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL, WMS1, SPHEROPHAKIA-BRACHYMORPHIA SYNDROME

The autosomal recessive form of Weill-Marchesani syndrome is associated with Fibrillin gene mutations.

National Institutes of Health

Papers overview

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1956

In 1939 Marchesani 1 described a syndrome consisting of brachydactyly, spherophakia, and glaucoma in four patients. Since then 27…