Diagnosis
CCA may be diagnosed through the physical characteristics associated with the disease of long, slender body and contractures of multiple joints, as well as other symptoms, such as muscular hypoplasia. Molecular genetic tests may be run using sequence analysis or deletion/duplication analysis to look for mutations in the FBN2 gene. Prenatal testing may be used for pregnancies with a risk of CCA, such as a parent or sibling with the disease. Management
Joint contractures are treated using physical therapy to increase mobility and to improve the effects of underdeveloped muscles. Braces and/or surgery may be required to correct kyphoscoliosis. Children born with CCA are usually tested using echocardiograms every two years until the risks of an enlarged aorta (aortic root dilation) have been ruled out. If this is detected, it is managed with standard care for this condition. Prognosis
Life expectancy may be affected by the disease symptoms present but it is not usually shortened for those with this disease. See also
Congenital contractural arachnodactyly in cattle

References


== External links ==
Absent pulmonary valve syndrome is a congenital heart defect that occurs when the flaps of the pulmonary valve do not develop or are severely underdeveloped (hypoplasia) resulting in aneurysms (dilation) of the pulmonary arteries and softening of the trachea and bronchi (tracheobronchomalacia). Usually, APVS occurs together with other congenital heart defects, most commonly ventricular septal defect and right ventricular outflow tract obstruction. It is sometimes considered a variant of Tetralogy of Fallot. == References ==