Trichorhinophalangeal Syndrome Type 1: Unusual Case Report and Review of Literature

Abstract

Trichorhinophalangeal syndrome type 1 [TRPS1; (OMIM #190350)] is a rare autosomal dominant genetic disorder on chromosome 8q24. The carrier of the syndrome may present skeletal, craniofacial, and oral manifestations. The main characteristics that the individual may present are scarce hair or total alopecia, thin upper lip, long erased nasolabial filter, bulbous nose and low set ears. In the oral cavity, there may be changes such as supernumerary teeth and hypodontia, size changes, including macrodontia and microdontia, and teeth in malocclusion. This study aims to review the literature on the main characteristics of TRPS1 and present a rare case with systemic and especially intraoral phenotypic characteristics of a pediatric patient with trichorhinophalangeal syndrome type 1 different from those already reported in literature. Twenty-seven articles dealing exclusively with TRPS1 were reviewed and its main systemic and intraoral characteristics were described. TRPS1 is rare, and the knowledge of new phenotypic characteristics is important to facilitate the diagnosis.