Weill-Marchesani Syndrome

**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.

**Tree numbers:** - C05.116.099.343.957 - C11.270.921 - C16.131.077.941 - C16.320.290.842 - C17.300.899

**Synonyms:** - Congenital Mesodermal Dysmorphodystrophy - Marchesani Syndrome - Marchesani-Weill Syndrome - Mesodermal Dysmorphodystrophy, Congenital - Spherophakia Brachymorphia Syndrome - Spherophakia-Brachymorphia Syndrome - Weill Marchesani Syndrome