FG syndrome

FG syndrome
Other namesOpitz–Kaveggia syndrome, FGS1
A black and white photo of a white man with an unusually large head, expressionless face and short hair looking to the right. He wears glasses and a white collared shirt with a dark sweater over it. He holds a closed book in both hands.
Kim Peek, the basis for Dustin Hoffman's character in the film Rain Man, probably 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.[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]

  1. ^ "Faq Pages". FG Syndrome Family Alliance. fgsyndrome.org. Archived from the original on 26 February 2019. Retrieved 20 September 2016.
  2. ^ Cite error: The named reference Opitz-1974 was invoked but never defined (see the help page).
  3. ^ Cite error: The named reference Thompson was invoked but never defined (see the help page).