Congenital Contractural Arachnodactyly: Marfanoid presentation.
Other features include flexion contractures of multiple and major joints
(including elbows, knees, hips, and fingers), often severe kyphoscoliosis
accompanied by ventilation impairment, muscular hypoplasia, cardiovascular
abnormalities (atrial septal defect, ventricular septal defect, interrupted
aortic arch, single umbilical artery, and, rarely, aortic root dilatation);
duodenal and esophageal atresia, intestinal malrotation; and camptodactyly.
Thought to be associated with mutations in the fibrillin 2 gene.