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Weill-Marchesani syndrome

Monday 17 November 2003

Weill-Marchesani syndrome is a connective tissue disorder characterised by short stature, brachydactyly, joint stiffness, and characteristic eye anomalies including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma.

Etiology

- autosomal dominant Weill-Marchesani syndrome: frame fibrillin-1 gene deletion (12525539)

- autosomal recessive Weill-Marchesani syndrome: germline mutations of ADAMTS10 (15368195)