FG syndrome
Rare genetic disease / From Wikipedia, the free encyclopedia
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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.[1] First reported by American geneticists John M. Opitz and Elisabeth G. Kaveggia in 1974,[2] its major clinical features include intellectual disability, hyperactivity, hypotonia (low muscle tone), and a characteristic facial appearance including macrocephaly (an abnormally large head).[3]
Quick Facts Other names, Specialty ...
FG syndrome | |
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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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