Inherited as an autosomal recessive trait, Fryns syndrome is characterized by many abnormalities present at birth. These characteristics include abnormalities of the head and face, protrusion of part of the stomach and the small intestines into the chest cavity, underdeveloped lungs, cleft palate, underdevelopment of the fingers and toes, and some degree of mental retardation.
A rare autosomal dominant disorder characterized by diaphragmatic hernia and facial, limb, cardiac, lung, and brain anomalies. The disease is often fatal in infancy; survivors may have cognitive deficits.