Developmental Dysplasia of Hip: Perspectives in Genetic Screening

Medical Sciences

Doaa Attia¹  Radoslav Zamborsky²  Milan Kokavec²  Lubos Danisovic³  Stefan Harsanyi³ 

[1] Department of Internal Medicine, Faculty of Medicine, Alexandria University, Chamblion St., Azarita, 21131 Alexandria, Egypt;Department of Orthopaedics, Faculty of Medicine, Comenius University and National Institute of Children’s Diseases, Limbova 1, 833 40 Bratislava, Slovakia;Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University, Sasinkova 4, 811 08 Bratislava, Slovakia;

关键词: developmental dysplasia of hip;    DDH screening;    genetic factors;    associated genes;   

DOI  :  10.3390/medsci7040059

来源: DOAJ

【 摘 要 】

Development dysplasia of the hip (DDH) is a complex developmental disorder despite being a relatively common condition mainly caused by incompatibility of the femoral head and the abnormal joint socket. Development dysplasia of the hip describes a wide spectrum of disorders ranging from minor acetabular dysplasia to irreducible dislocation of the hip. Modern medicine still suffers from lack of information about screening and precise genetic examination. Genome wide linkage and association studies have brought significant progress to DDH diagnosis. Association studies managed to identify many candidate (susceptible) genes, such as PAPPA2, COL2A1, HOXD9, GDF-5, and TGFB1, which play a considerable role in the pathogenesis of DDH. Early detection of DDH has a big chance to help in preventing further disability and improve the psychological health and quality of life in those children. This emphasizes the importance to establish a universal screening program along with the genetic counseling.

【 授权许可】

Unknown