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.
Bassett Health Center Little Falls Primary Care
. Dr. Grace is rated as an Experienced provider by MediFind in the treatment of Weill-Marchesani Syndrome. Her top areas of expertise are Hypothyroidism, Obesity in Children, Enlarged Prostate (BPH), and Familial Hypertension.
Bassett Health Center Cobleskill
. Dr. Novak is rated as an Experienced provider by MediFind in the treatment of Weill-Marchesani Syndrome. His top areas of expertise are Relapsing Multiple Sclerosis (RMS), Enlarged Prostate (BPH), Type 2 Diabetes (T2D), and Lymphangitis.
Healthcare Associates
Hans Kim is a primary care provider, practicing in Internal Medicine in Boston, Massachusetts. Dr. Kim is rated as a Distinguished provider by MediFind in the treatment of Weill-Marchesani Syndrome. His top areas of expertise are Craniofacial-Deafness-Hand Syndrome, Deafness Craniofacial Syndrome, Weill-Marchesani Syndrome, and Acromegaloid Facial Appearance Syndrome.
Published Date: February 01, 2015
Published By: National Institutes of Health