FG-Syndrom
FG syndrome (FGS; also known as Opitz-Kaveggia syndrome) is a rare genetic syndrome linked to the X chromosome which causes physical anomalies and developmental delays. First reported by Opitz and Kaveggia in 1974,[1] its major clinical features include retardation, hyperactive behavior, severe constipation, hypotonia (low muscle tone), and a characteristic facial appearance.[2]
Characteristics
FG syndrome's major clinical features include mental retardation, usually severe; hyperactive behavior, often with an outgoing personality; severe constipation, with or without structural anomalies in the anus such as imperforate anus; macrocephaly; severe hypotonia; and a characteristic facial appearance due to hypotonia, giving a droopy, "open-mouthed" expression, a thin upper lip, and a full or pouting lower lip. About a third of reported cases die in infancy, usually due to respiratory infection; premature death is rare after infancy.[2]
History
The name of the syndrome comes from the initials of the surnames of two sisters, who had five sons with the syndrome. The first study of the syndrome, published in 1974,[1] established that it was linked to inheritance of the X chromosome.[3]
A 2008 study concluded that Kim Peek, who was the basis for the Dustin Hoffman character in the movie Rain Man, probably has FG syndrome.[3]
External Links
References
- ↑ a b Opitz JM, Kaveggia EG: Studies of malformation syndromes of man XXXIII: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. In: Z Kinderheilkd. 117. Jahrgang, Nr. 1, 1974, S. 1–18, doi:10.1007/BF00439020, PMID 4365204.
- ↑ a b Thompson E, Baraitser M: FG syndrome. In: J Med Genet. 24. Jahrgang, Nr. 3, 1987, S. 139–43, PMID 3572995, PMC 1049945 (freier Volltext).
- ↑ a b Opitz JM, Smith JF, Santoro L: The FG syndromes (Online Mendelian Inheritance in Man 305450): perspective in 2008. In: Adv Pediatr. 55. Jahrgang, 2008, S. 123–70, doi:10.1016/j.yapd.2008.07.014, PMID 19048730.