Clinical findings support the diagnosis of MKS, including identification of biallelic pathogenetic variants. Diagnosis additionally requires ruling out Bardet-Biedl Syndrome.
McKusick–Kaufman syndrome
Qazi–Markouizos syndrome
Maroteaux–Lamy syndrome
Zunich–Kaye syndrome
Foix–Alajouanine syndrome
Coffin–Siris syndrome
Cronkhite–Canada syndrome
Axenfeld–Rieger syndrome