Congenital Contractural ArachnodactylySymptoms, Doctors, Treatments, Advances & More
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.
Bassett Health Center Norwich
Jennifer O'reilly is a primary care provider, practicing in Internal Medicine in Norwich, New York. She has been practicing medicine for over 18 years. Dr. O'reilly is rated as an Experienced provider by MediFind in the treatment of Congenital Contractural Arachnodactyly. She is also highly rated in 13 other conditions, according to our data. Her clinical expertise encompasses Ringworm, Maturity Onset Diabetes of the Young, Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. O'reilly is currently accepting new patients.
Heart And Vascular Center At Durham Outpatient Center
Angela Yetman is a Pediatric Cardiologist and a Cardiologist practicing medicine in Omaha, Nebraska. Dr. Yetman is rated as an Advanced provider by MediFind in the treatment of Congenital Contractural Arachnodactyly. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Marfan Syndrome, Congenital Contractural Arachnodactyly, Congenital Heart Disease (CHD), and Arachnodactyly. Dr. Yetman is currently accepting new patients.
Heart And Vascular Center - Center For Advanced Care - Froedtert Hospital
Peter Rossi is a Vascular Surgeon practicing medicine in Milwaukee, Wisconsin. Dr. Rossi is rated as an Advanced provider by MediFind in the treatment of Congenital Contractural Arachnodactyly. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Abdominal Aortic Aneurysm (AAA), Arterial Insufficiency, Peripheral Artery Disease, Carotid Artery Surgery, and Gastrostomy. Dr. Rossi is board certified in Surgery and Vascular Surgery. Dr. Rossi is currently accepting new patients.
Published Date: July 01, 2013
Published By: National Institutes of Health