Short rib – polydactyly syndrome

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Short rib – polydactyly syndrome
Classification and external resources
ICD-10 Q77.2
ICD-9 756.5
OMIM 263530 263520 263510 269860
DiseasesDB 32791 32793 32792 32795
MeSH C05.116.099.708.857

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"

References[edit]

  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.