disease, and CNS anomalies (arterial malformation, stenosis of the internal carotid, and small pituitary gland). [emedicine.medscape.com]

Classic features include abnormal thumbs, absent radii, short stature, skin hyperpigmentation, including café au lait spots, abnormal facial features (triangular face, microcephaly), abnormal kidneys, and decreased fertility. [en.wikipedia.org]