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.
Heart And Vascular Center At Durham Outpatient Center
Angela Yetman is a Cardiologist and a Pediatric Cardiologist practicing medicine in Omaha, Nebraska. She has been practicing medicine for over 35 years. Dr. Yetman is rated as an Advanced provider by MediFind in the treatment of Congenital Contractural Arachnodactyly. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Marfan Syndrome, Turner Syndrome, Congenital Contractural Arachnodactyly, and Congenital Heart Disease (CHD).
Texas Health Heart And Vascular Specialists
Martin Berk is an Advanced Heart Failure and Transplant Cardiologist practicing medicine in Dallas, Texas. Dr. Berk is rated as an Experienced provider by MediFind in the treatment of Congenital Contractural Arachnodactyly. He is also highly rated in 37 other conditions, according to our data. His clinical expertise encompasses Heart Failure, Atrial Fibrillation, Pediatric Myocarditis, and Sitosterolemia.
St. Christopher's Pediatric Associates Cardiology - E. Erie Avenue
Anna Tsirka is a Pediatrics specialist and a Pediatric Cardiologist practicing medicine in Philadelphia, Pennsylvania. Dr. Tsirka is rated as an Experienced provider by MediFind in the treatment of Congenital Contractural Arachnodactyly. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Heart Murmurs, Ventricular Septal Defects, Patent Ductus Arteriosus, and Tetralogy of Fallot. Dr. Tsirka is board certified in American Board Of Pediatrics.
Published Date: July 01, 2013
Published By: National Institutes of Health