A Case of Trichorhinophalangeal Syndrome Type III

Abstract

Trichorhinophalangeal syndrome (TRPS) is a rare genetic disorder characterized by a number of clinical features including slowly growing sparse scalp hair, a pear-shaped nose, and cone-shaped epiphyses of the phalanges. The syndrome has three subgroups: type I , II, and M. TRPS III is the rarest and most recently recognized form and inherited in an autosomal dominant manner. We describe a 19-year-old male with TRPS III, who presented with characteristic clinical and radiological features. To our knowledge, this is the first report of TRPS III in Korea.