• Med Sci (Basel) · Apr 2019

    Review

    Developmental Dysplasia of Hip: Perspectives in Genetic Screening.

    • Radoslav Zamborsky, Milan Kokavec, Stefan Harsanyi, Doaa Attia, and Lubos Danisovic.
    • Department of Orthopaedics, Faculty of Medicine, Comenius University and National Institute of Children's Diseases, Limbova 1, 833 40 Bratislava, Slovakia. radozamborsky@gmail.com.
    • Med Sci (Basel). 2019 Apr 11; 7 (4).

    AbstractDevelopment 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.

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