Temtamy Preaxial Brachydactyly Syndrome (TPBS)

Temtamy Preaxial Brachydactyly Syndrome, also known as preaxial brachydactyly syndrome, temtamy type, is related to brachydactyly and sensorineural hearing loss. An important gene associated with Temtamy Preaxial Brachydactyly Syndrome is CHSY1 (Chondroitin Sulfate Synthase 1), and among its related pathways/superpathways are Metabolism and Metapathway biotransformation Phase I and II. Affiliated tissues include bone and eye, and related phenotypes are abnormal digit morphology and duplication of thumb phalanx