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Weill-Marchesani Syndrome HELP
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Definition

Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen.

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

The autosomal dominant form of Weill-Marchesani syndrome is associated with Adamts10 gene mutations.

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