Congenital Contractural Arachnodactyly Overview
Learn About Congenital Contractural Arachnodactyly
Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They often have permanently bent joints (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Additional features of congenital contractural arachnodactyly include underdeveloped muscles, a rounded upper back that also curves to the side (kyphoscoliosis), permanently bent fingers and toes (camptodactyly), ears that look "crumpled," and a protruding chest (pectus carinatum). Rarely, people with congenital contractural arachnodactyly have heart defects such as an enlargement of the blood vessel that distributes blood from the heart to the rest of the body (aortic root dilatation) or a leak in one of the valves that control blood flow through the heart (mitral valve prolapse). The life expectancy of individuals with congenital contractural arachnodactyly varies depending on the severity of symptoms but is typically not shortened.
Mutations in the FBN2 gene cause congenital contractural arachnodactyly. The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue that supports the body's joints and organs. Additionally, microfibrils regulate the activity of molecules called growth factors. Growth factors enable the growth and repair of tissues throughout the body.
The prevalence of congenital contractural arachnodactyly is estimated to be less than 1 in 10,000 worldwide.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Community Medicine Associates
Pankaj Madan is a Cardiologist in San Antonio, Texas. Dr. Madan and is rated as an Advanced provider by MediFind in the treatment of Congenital Contractural Arachnodactyly. His top areas of expertise are Ventricular Septal Defects, Patent Ductus Arteriosus, Coarctation of the Aorta, and Isthmian Coarctation. Dr. Madan is currently accepting new patients.
Scott And White Clinic
David Dawson is a Vascular Surgeon and a General Surgeon in Temple, Texas. Dr. Dawson and is rated as an Advanced provider by MediFind in the treatment of Congenital Contractural Arachnodactyly. His top areas of expertise are Abdominal Aortic Aneurysm (AAA), Arterial Insufficiency, Arterial Tortuosity Syndrome, Carotid Artery Surgery, and Stent Placement. Dr. Dawson is currently accepting new patients.
Waco Heart & Vascular
Abdul Keylani is an Interventional Cardiologist and a Cardiologist in Waco, Texas. Dr. Keylani and is rated as an Experienced provider by MediFind in the treatment of Congenital Contractural Arachnodactyly. His top areas of expertise are Hypertensive Heart Disease, Atrial Fibrillation, Heart Failure, Aortic Valve Replacement, and Transcatheter Aortic Valve Replacement (TAVR). Dr. Keylani is currently accepting new patients.
Summary: The main purpose of this study is to define the complex genetic and pathogenic basis of thoracic aortic aneurysm (TAA) and other forms of aortopathy and/or aortic valve disease by identifying novel disease-causing genes and by identifying important genetic modifiers for aortic and aortic valve disease severity.
Published Date: July 01, 2013
Published By: National Institutes of Health