Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Synonyms: Absent tibia-polydactyly syndrome | Werner mesomelic spectrum
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare genetic dysostosis syndrome with marked inter- and intra-familial variation typically characterized by triphalangeal thumbs hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases) although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly as well as abnormal carpal and metatarsal bones.
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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Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome?
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