Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review

Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant genetic malformation disorder which is best characterized by both its craniofacial and skeletal abnormalities. The purpose of this paper is to identify the various orthopedic manifestations and management in patients with TRPS. A systematic search of PubMed, Ovid MEDLINE, and Cochrane Library was conducted. They were each individually searched for primary articles yielding information on the orthopedic manifestations and management of patients with TRPS. The goals and results of each of the included studies were described. Data regarding the demographics, orthopedic condition, treatment strategy, and outcomes were extracted and analyzed. 221 unique articles were retrieved, with 13 articles being included in the study. 26 patients with TRPS were identified. Trials of conservative management were reported for 14 patients, and surgical intervention was pursued for 8 patients. The mean age for surgery was 14.1 years. The most common orthopedic manifestations of TRPS are clinodactyly, Perthes-like changes, and coxa magna. Early identification and maintenance of TRPS is important for being able to monitor musculoskeletal health of the patients in order to prevent detrimental outcomes. Additional high-quality research is required regarding the orthopedic manifestations and treatment of this patient population.