FG syndrome

FG syndrome
Other namesOpitz–Kaveggia syndrome, FGS1
Kim Peek (1951–2008), an American man with prodigious memory, was once believed to be autistic but a 2008 study proposed he had FG syndrome.
SpecialtyMedical genetics
Usual onsetBirth
DurationLifelong
Risk factorsFamily history (genetics)

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).