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

Genet Res (Camb). 2021 Feb 2:2021:6652957. doi: 10.1155/2021/6652957. eCollection 2021.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review
  • Systematic Review

MeSH terms

  • Dwarfism
  • Face / abnormalities
  • Genetic Association Studies
  • Genetic Diseases, X-Linked
  • Genitalia, Male / abnormalities
  • Guanine Nucleotide Exchange Factors* / genetics
  • Hand Deformities, Congenital
  • Heart Defects, Congenital
  • Humans
  • Male
  • Mutation
  • Prevalence


  • Guanine Nucleotide Exchange Factors

Supplementary concepts

  • Aarskog Syndrome