What is congenital contractural arachnodactyly?
Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall and slender with long limbs (dolichostenomelia), and have long, slender fingers and toes (arachnodactyly); joint deformities (contractures) that restrict movement; and a “crumpled” look to their ears. Additional features of congenital contractural arachnodactyly include underdeveloped muscles, abnormal curvature of the spine (scoliosis), permanently bent fingers and toes (camptodactyly), and a protruding chest (pectus carinatum). Occasionally, people with this condition have heart problems, such as enlargement of the blood vessel that distributes blood from the heart to the rest of the body (dilatation of the aorta) or leaks in one of the valves that control blood flow through the heart (mitral valve regurgitation). A rare, severe form of congenital contractural arachnodactyly involves heart and digestive system abnormalities in addition to the typical
