Genetic testing for mutations in SETBP1 gene can confirm a diagnosis.
Schinzel–Giedion syndrome
Bardet–Biedl syndrome
Langer–Giedion syndrome
Daentl Townsend Siegel syndrome
Beckwith–Wiedemann syndrome
Letterer–Siwe disease
Prader–Willi syndrome
Weismann-Netter–Stuhl syndrome