Short rib-polydactyly syndrome type 5

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Short rib-polydactyly syndrome type 5

A rare ciliopathy with major skeletal involvement characterized by short ribs micromelia limb bowing polysyndactyly absent ossification of the radii tibiae and fibulae as well as the bony elements of the hands and feet and hypoplastic scapulae. Additional hallmarks of ciliopathic disease such as laterality defects and cystic kidneys have also been observed.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

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Short rib-polydactyly syndrome type 5?

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