Syndrome of unknown etiology with variable expression
characterized mainly by nonossifying fibromata, extraskeletal congenital
anomalies such as café au lait spots, mental retardation, hypogonadism
or cryptorchidism, and ocular and cardiovascular malformations. Other
clinical features include chylothorax, stenosis of aortic isthmus, mitral
insufficiency, chylopericardium, mental retardation, and precocious puberty.