Other Names for this Disease
- Mesodermal dysmorphodystrophy congenital
- Spherophakia - brachymorphia
- Spherophakia-brachymorphia syndrome
- WM Syndrome
Tests & Diagnosis
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The diagnosis of Weill-Marchesani syndrome is made on the presence of the characteristic signs and symptoms. Genetic testing can help confirm the diagnosis. The Genetic Testing Registry (GTR) provides information on the genetic tests available for Weill-Marchesani syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 10/3/2013
- Ekaterini Tsilou and Ian M MacDonald. Weill-Marchesani Syndrome. GeneReviews. 02/14/2013; http://www.ncbi.nlm.nih.gov/books/NBK1114/. Accessed 10/3/2013.