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 http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Short rib-polydactyly syndrome type 5?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Clinical Trials
For a list of clinical trials in this disease area, please click here.