FG syndrome
FG syndrome (FGS) is a rare genetic syndrome caused by one or more recessive genes located on the X chromosome and causing physical anomalies and developmental delays. FG syndrome was named after the first letters of the surnames of the first patients noted with the disease. First reported by American geneticists John M. Opitz and Elisabeth G. Kaveggia in 1974, its major clinical features include intellectual disability, hyperactivity, hypotonia (low muscle tone), and a characteristic facial appearance including macrocephaly (an abnormally large head).
| FG syndrome | |
|---|---|
| Other names | Opitz–Kaveggia syndrome, FGS1 |
| Kim Peek, the basis for Dustin Hoffman's character in the film Rain Man, probably had FG syndrome | |
| Specialty | Medical genetics |
| Usual onset | Birth |
| Duration | Lifelong |
| Risk factors | Family history (genetics) |
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