tibia, hypoplasia or aplasia of, with polydactyly
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.
MONDO:0018234
dysostosis
is_a
MONDO:0019054
congenital limb malformation
is_a
MONDO:0019713
non-syndromic limb reduction defect
is_a
THYP
related
absence of tibia with polydactyly
related
absent tibia-polydactyly syndrome
exact
hypoplastic tibiae-postaxial polydactyly syndrome
exact
polydactyly with absent tibia
related
tibia, hypoplasia or aplasia of, with polydactyly
exact