Short rib-polydactyly syndrome, Verma-Naumoff type

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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 Data version July 2024

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Short rib-polydactyly syndrome, Verma-Naumoff type?

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