The diagnosis of BBS is established by clinical findings and family history. Molecular genetic testing can be used to confirm the diagnosis. Multigene panels offer the most effective approach in achieving molecular confirmation of BBS.
Bardet–Biedl syndrome
Prader–Willi syndrome
Schinzel–Giedion syndrome
Beckwith–Wiedemann syndrome
Langer–Giedion syndrome
Wiedemann–Steiner syndrome
Smith–Magenis syndrome
Wiedemann–Rautenstrauch syndrome