Synonyms: Short rib-polydactyly syndrome type 3
A rare ciliopathy with major skeletal involvement characterized by short ribs and extremely narrow thorax severely shortened tubular bones with round metaphyseal ends and lateral spikes and anomalies of multiple organs such as the heart kidneys liver pancreas intestine and genitalia with occasional occurrence of situs inversus totalis. Cleft lip/palate and polydactyly may also be present. The syndrome is fatal prenatally or in the perinatal period.
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 April 2026
Newly diagnosed with
Short rib-polydactyly syndrome, Verma-Naumoff type?
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Advocacy Organizations
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
For a list of clinical trials in this disease area, please click here.
