Weill-Marchesani Syndrome Overview
Learn About Weill-Marchesani Syndrome
Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin.
Mutations in the ADAMTS10 and FBN1 genes can cause Weill-Marchesani syndrome. The ADAMTS10 gene provides instructions for making a protein whose function is unknown. This protein is important for normal growth before and after birth, and it appears to be involved in the development of the eyes, heart, and skeleton. Mutations in this gene disrupt the normal development of these structures, which leads to the specific features of Weill-Marchesani syndrome.
Weill-Marchesani syndrome appears to be rare; it has an estimated prevalence of 1 in 100,000 people.
Weill-Marchesani syndrome can be inherited in either an autosomal recessive or an autosomal dominant pattern.
Stuart Cain practices in Manchester, United Kingdom. Mr. Cain is rated as a Distinguished expert by MediFind in the treatment of Weill-Marchesani Syndrome. His top areas of expertise are Weill-Marchesani Syndrome, GEMSS Syndrome, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, and Geleophysic Dysplasia.
Cay Kielty practices in Manchester, United Kingdom. Kielty is rated as a Distinguished expert by MediFind in the treatment of Weill-Marchesani Syndrome. Their top areas of expertise are Weill-Marchesani Syndrome, GEMSS Syndrome, Geleophysic Dysplasia, and Myhre Syndrome.
Catherine Boileau practices in Paris, France. Ms. Boileau is rated as a Distinguished expert by MediFind in the treatment of Weill-Marchesani Syndrome. Her top areas of expertise are Marfan Syndrome, Familial Hypercholesterolemia, Isolated Ectopia Lentis, and High Cholesterol.
Published Date: February 01, 2015
Published By: National Institutes of Health