Short rib–polydactyly syndrome

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Short rib–polydactyly syndrome
PMC2890924 IJRI-20-138-g006.png
Short rib polydactyly syndrome - type 2-Indentation of upper lip, flattened nose, micrognathia, narrow thorax

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"


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

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