Aesthetic and plastic surgery for trichorhinophalangeal syndrome

Trichorhinophalangeal syndrome is an autosomal dominant disorder characterized by a number of clinical features including short stature, sparse scalp hair, a pear-shaped bulbous nose, upper lip deformity, protruding ears, mandibular hypoplasia, and cone-shaped epiphyses of the phalanges. The syndrome has three subgroups: types I, II, and III. Although a few authors have pointed out the importance of aesthetic and plastic surgery in this syndrome, it has attracted relatively little attention. This review of the literature indicates that many patients have had various surgical corrections for associated abnormalities, including otoplasty and rhinoplasty. Unlike aesthetic or plastic corrections in other well-known congenital disorders, most corrections in trichorhinophalangeal syndrome have been performed prior to a diagnosis of the syndrome. Accurate identification of this syndrome is important to provide appropriate aesthetic treatments. Careful evaluation of patients is required when they present for surgery or aesthetic counseling, because they may have a variety of occult associations such as recurrent respiratory tract infections and urogenital anomalies.