/polydactyly of a triphalangeal thumb

polydactyly of a triphalangeal thumb

Rare Disease

MONDO:0008270

Also Known As

PPD2polydactyly, preaxial type 2polydactyly, preaxial type IIpreaxial polydactyly type 2triphalangeal thumb, type iTPT-PS syndromepolydactyly of triphalangeal thumbpolydactyly, preaxial 2polydactyly, preaxial IItriphalangeal thumbtriphalangeal thumb with polysyndactylytriphalangeal thumb-polydactyly syndrometriphalangeal thumb-polysyndactyly syndrome

Definition

A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia.