Moreover, variants in DYNC2H1 were also described in types I-III short-rib polydactyly syndrome (SRPS) (Saldino–Noonan syndrome, Majewski syndrome, and Verma–Naumoff syndrome), which belong to the group of “ciliopathies with major skeletal involvement”, according to current nosology [22,23]. The gene discussed is DYNC2H1; the disease is short-rib thoracic dysplasia 6 with or without polydactyly.