Triphalangeal thumb-polysyndactyly

(MIM 174 500)

(syndrome TPT - PS)

Very rare. Autosomal dominant transmission with variable expressivity of a duplication of a regulatory element in the LMBR1 gene on 7q36. Association of an triphalangeal thumb with pre- or postaxial polydactyly, isolated syndactyly or polysyndactyly. The foot is less severely involved than the hands.


Anesthetic implications:

echocardiography to exclude any cardiac malformation.


References : 


Updated: September 2018