Short rib-polydactyly syndrome, Verma-Naumoff type
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 September 2023.
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Short rib-polydactyly syndrome, Verma-Naumoff type?
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Advocacy Organizations
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.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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