Home > D. General pathology > Genetic and developmental anomalies > Weill-Marchesani syndrome
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)
