Short rib polydactyly syndrome(s) (SRPS) comprise a rare group of severe osteochondrodysplasias. There are four major recognized types present:

  • type I: Saldino-Noonan type
  • type II:: Majewski type
  • type III: Verma-Naumoff type
  • type IV: Beemer-Langer type

There may also be other very rare types described, such as :

  • Hall-Piepkorn type
  • Le Marec type
  • Martinez-Frias type
  • Tsai-Huang type
  • Yang type

Clinical presentation

While there is some variation in the clinical spectrum, they can be collectively characterized by :



Collectively, most cases carry an autosomal recessive inheritance.


Multiple anomalies of major organs are common . These include:

Treatment and prognosis

SRPSs are lethal anomalies and management is often supportive.

See also

Siehe auch:
und weiter: