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

Andrade Rodrigo Soares De,Fonseca Cláudia De Alvarenga Diniz,Júnior Hercílio Martelli,Gonçalves Juliana De Lima,Gomes Heloisa De Sousa,Taburini Adriana Boeri Freire

doi:10.36959/379/362

Andrade Rodrigo Soares De, Fonseca Cláudia De Alvarenga Diniz + Show 4 more

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https://doi.org/10.36959/379/362

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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.

Highlights

Trichorhinophalangeal syndrome type 1 [TRPS1; (OMIM #190350)] is characterized by being a rare autosomal dominant alteration due to chromosome 8q24 mutation or deletion, in the TRPS1 gene [1]
Its prevalence is 1:1,000,000, being more common in females (7:1) [4]. Because it presents a broad description of abnormalities, TRPS is classified into three subtypes according to the level of gene mutation
The inclusion criteria used to identify relevant articles were: (i) Cases that directly addressed the oral manifestations of TRPS1; (ii) Cases that generally address only patients affected by TRPS1, and (iii) Genetically confirmed diagnosis of TRPS1

Summary

Introduction

Trichorhinophalangeal syndrome type 1 [TRPS1; (OMIM #190350)] is characterized by being a rare autosomal dominant alteration due to chromosome 8q24 mutation or deletion, in the TRPS1 gene [1]. Its prevalence is 1:1,000,000, being more common in females (7:1) [4]. Because it presents a broad description of abnormalities, TRPS is classified into three subtypes according to the level of gene mutation. In addition to the typical phenotype of the syndrome, patients with subtype 1 may present short stature and bone malformations. In subtype 2, depending on the degree of deletion of the TRPS1, the individual may have mental retardation and bone exostosis. TRPS subtype 3 is characterized as a more intense manifestation of subtype 1, and the individual may have severe brachydactyly and delayed growth [5]

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