/tibia, hypoplasia or aplasia of, with polydactyly

tibia, hypoplasia or aplasia of, with polydactyly

Rare Disease

MONDO:0008572

Also Known As

Werner mesomelic syndromeabsent tibia-polydactyly syndromehypoplastic or aplastic tibia with polydactylyhypoplastic tibiae-postaxial polydactyly syndrometibia, hypoplasia or aplasia of, with polydactylyTHYPabsence of tibia with polydactylypolydactyly with absent tibiatibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimeliatibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

Definition

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.