The body may have a variety of hernias. There can be a variety of congenital heart and kidney defects. Skin may be dry and have some abnormal pigmentation, birthmarks or moles. Both boys and girls may have a malformation of the anal opening and sometimes imperforate anus. Often there is constipation.
Many individuals have a crocked backbone, a condition called scoliosis.
There may be a short neck. The sternum may be affected. Feet may be flat with crowded toes. Hands may have a single transverse flexion crease in one or both hands. Reduced muscle tone is common, often referred to as congenital or cerebral hypotonia.