Short rib–polydactyly syndrome explained

Short rib–polydactyly syndrome is a family of four closely related dysplasias:

• I – "Saldino-Noonan type"
• II – "Majewski type"
• III – "Verma-Naumoff type" (associated with DYNC2H1)^[1]
• IV – "Beemer-Langer type"

Notes and References

1. Merrill AE, Merriman B, Farrington-Rock C, etal . Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome . Am. J. Hum. Genet. . 84 . 4 . 542–9 . April 2009 . 19361615 . 2667993 . 10.1016/j.ajhg.2009.03.015 .