The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review

Abstract

Aarskog-Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1 gene. A systematic review was carried out to analyse the prevalence of clinical manifestations found in patients, as well as to evaluate the genotype-phenotype correlation. The results obtained show that clinical findings of the craniofacial, orthopaedic, and genitourinary tract correspond to the highest scores of prevalence. The authors reclassified the primary, secondary, and additional criteria based on their prevalence. Furthermore, it was possible to observe, in accordance with previous reports, that the reported phenotypes do not present a direct relation to the underlying genotypes.

Figure 1

PRISMA flowchart showing the stages of the systematic review. The screening process identified 22 studies from an initial pool of 154 as being relevant to the current review and having satisfied the inclusion criteria.

Figure 2

(a) Frontal view of a patient with severe expressions (image courtesy of Orrico et al. [38]). (b) Lateral view of a patient with severe expressions (image courtesy of Orrico et al. [38]).