Abstract
As one of the most frequent skeletal anomalies, developmental dysplasia of the hip (DDH) is characterized by a considerable range of pathology, from minor laxity of ligaments in the hip joint to complete luxation. Multifactorial etiology, of which the candidate genes have been studied the most, poses a challenge in understanding this disorder. Candidate gene association studies (CGASs) along with genome-wide association studies (GWASs) and genome-wide linkage analyses (GWLAs) have found numerous genes and loci with susceptible DDH association. Studies put major importance on candidate genes associated with the formation of connective tissue (COL1A1), osteogenesis (PAPPA2, GDF5), chondrogenesis (UQCC1, ASPN) and cell growth, proliferation and differentiation (TGFB1). Recent studies show that epigenetic factors, such as DNA methylation affect gene expression and therefore could play an important role in DDH pathogenesis. This paper reviews all existing risk factors affecting DDH incidence, along with candidate genes associated with genetic or epigenetic etiology of DDH in various studies.
Highlights
developmental dysplasia of the hip (DDH) is a developmental disorder that leads to various aberrations in the building structures of the hip joint, leading to abnormalities in the socket for the femoral head and laxity in the surrounding ligaments
Phenotypical heterogeneity and trouble reaching a clinical consensus for diagnostics in adults have led to the need for better and earlier diagnostic methods, which could only be achieved by genetic examination
We do not know the exact etiology of DDH, we know of risk factors, that contribute to the incidence of primary or secondary hip dysplasia
Summary
DDH is a developmental disorder that leads to various aberrations in the building structures of the hip joint, leading to abnormalities in the socket for the femoral head and laxity in the surrounding ligaments. It includes a wide range of morphological aberrations and their resulting functional disorders [1]. Complications are typical, especially in older age, but are not an exception even in youth and in worse cases lead to total hip arthroplasty (THA) at an early age In clinical practice, this diagnosis in children during their individual phases of growth has a tendency to exhibit either improvement to a milder, even physiological state or to more severe pathology.
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