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Short rib polydactyly syndrome

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

There may also be other very rare types described such as 9

Clinical features

While there is some variation in clinical spectrum they can be collectively characteristed by 2-3

Pathology

Genetics

Collectively most cases carry an autosomal recessive inheritance

Associations

Multiple anomalies of major organs are common 5. These include

Prognosis

SRPS's are lethal anomalies and management is often supportive.

See also

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