ADAMTSL2 autosomal dominant


Disease surveillance is indicated to rule out features that are connective tissue related such as cardiac findings and aneurysms requiring echocardiograms. Skeletal surveys to rule out bone defects, joint subluxatons or dislocations and scoliosis are beneficial. Monitoring for cutaneous lesions or fragile skin indicating risk for surgical repair and poor healing, and eye exams to rule out related disorders. These comments are fairly standard for any patient having a connective tissue disorder gene in which there are several dozen as we know.