short rib polydactyly syndrome

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

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

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:

SRPSs are lethal anomalies and management is often supportive.