Radial deficiency-tibial hypoplasia syndrome
Radial deficiency-tibial hypoplasia syndrome is a rare genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.
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 2024
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Radial deficiency-tibial hypoplasia syndrome?
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