Research Progress on Etiological Mechanism,Diagnosis and Treatment of Fraser Syndrome
LIU Jing
XIN Min
LUO Yu-lei
LIU Jin-xiu
Abstract：Fraser syndrome(FS),a rare autosomal recessive genetic disease,is primarily caused by the mutation in genes associated with the Fras1/Frem protein complex,which is closely related to the disruption of epithelial-mesenchymal interactions.With significant clinical and genetic heterogeneity,FS is characterized by multiple congenital malformations,and typical features such as cryptophthalmos,syndactyly,renal agenesis,ambiguous genitalia,and laryngeal atresia.Prenatal ultrasound typically reveals oligohydramnios and renal agenesis.FS predominantly manifests during fetal and infant stages,with high rates of disability and mortality.To date,the genes associated with FS include FRA S1,FREM2,and GRIP1.Clinical diagnosis of FS requires a comprehensive evaluation of symptoms,imaging examinations,and genetic testing.Although there is currently no specific treatment for FS,the targeted multidisciplinary interventions and supportive care can improve patient outcomes.This review summarizes the advances in the clinical characteristics,etiology,pathogenesis,diagnosis,and treatment of FS,aiming to provide valuable insights for its clinical management.
Keywords：Fraser syndromeGenetic diseasesPhenotypeDiagnosisFRAS1 geneFREM2 geneGRIP1 gene
Publication Date：2025-05-15
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：7( 247-252,264 )