Short rib polydactyly syndrome

Last revised by Henry Knipe on 21 Apr 2018

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 9:

While there is some variation in the clinical spectrum, they can be collectively characterized by 2-3:

Collectively, most cases carry an autosomal recessive inheritance.

Multiple anomalies of major organs are common 5. These include:

SRPSs are lethal anomalies and management is often supportive.

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