MCID: ABS005
MIFTS: 3

Absence of Tibia with Polydactyly

Categories: Rare diseases

Aliases & Classifications for Absence of Tibia with Polydactyly

MalaCards integrated aliases for Absence of Tibia with Polydactyly:

Name: Absence of Tibia with Polydactyly 54
Polydactyly with Absent Tibia 54

Classifications:



Summaries for Absence of Tibia with Polydactyly

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 988Disease definitionTibial 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Absence of Tibia with Polydactyly, is also known as polydactyly with absent tibia.

Related Diseases for Absence of Tibia with Polydactyly

Symptoms & Phenotypes for Absence of Tibia with Polydactyly

Drugs & Therapeutics for Absence of Tibia with Polydactyly

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Expression for Absence of Tibia with Polydactyly

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GO Terms for Absence of Tibia with Polydactyly

Sources for Absence of Tibia with Polydactyly

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