Phenotypic characterization of Raine Syndrome

Abstract

Introduction: Raine Syndrome (RNS, MIM 259775) is an autosomal recessive genetic disorder belong to rare diseases caused by mutations of the FAM20C gene. Objective: to describe the clinical and physiopathological characteristics of the RNS according to the current scientific evidence. Method: the material was obtained after an electronic search was carried out in the databases Medline (Pubmed), EBSCO-Host and Scopus (Science direct). Results: the existence of two types of RNS was found: lethal RNS and non-lethal RNS. Although in the first, individuals die hours after birth, contrary to non-lethal RNS patients. RNS patients are characterized clinically by presenting craniofacial anomalies, osteosclerosis, exophthalmia, a narrow palate, ears in a low position, marked prognathism, deformities of the middle and nose, gingival hyperplasia and amelogenesis imperfecta. Health professionals are recommended to make a careful detailed diagnosis due to the variability of the clinical characteristics, in addition, bear in mind when assessment and evaluation, a multidisciplinary team increase the probabilities of success.