The FG syndrome - a distinctive genetic disorder

The FG syndrome is a distinctive genetic disorder which is characterized by mental retardation,hypotonia, anal stenosis and/or obstipation, macrocepha ly and characteristic facial anomalies. The first description by J.M. Opitz and E.G. Kaveggia of the syndrome was in 1974. The inheritance is X-linked . The pathogenesis is not clear to date. FG are the initials of the first p ublished family. FG syndrome is described here as a case report, a review o f the literature is given.