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Developmental Dysplasia of the Hip: a Review of Etiopathogenesis, Risk Factors, and Genetic Aspects

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Developmental Dysplasia of the Hip: a Review of Etiopathogenesis, Risk Factors, and Genetic Aspects medicina Review Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects Stefan Harsanyi 1,* , Radoslav Zamborsky 2, Lubica Krajciova 1, Milan Kokavec 2 and Lubos Danisovic 1 1 Faculty of Medicine, Institute of Medical Biology, Genetics and Clinical Genetics, Comenius University in Bratislava, 811-08 Bratislava, Slovakia; [email protected] (L.K.); [email protected] (L.D.) 2 Department of Orthopedics, Faculty of Medicine, Comenius University and National Institute of Children’s Diseases, 833-40 Bratislava, Slovakia; [email protected] (R.Z.); [email protected] (M.K.) * Correspondence: [email protected]; Tel.: +421-2-59357-299 Received: 29 February 2020; Accepted: 28 March 2020; Published: 31 March 2020 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. Keywords: developmental dysplasia of the hip; DDH; genetics; epigenetics; risk factor 1. Introduction 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]. These disorders can be manifested only by a mild laxity in the capsule of the hip joint, or they can lead to early osteoarthritis (OA), secondary femur damage and movement problems. 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. 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. Although isolated DDH can be diagnosed in healthy individuals, there are cases when extensive genetic mutations cause teratologic or syndromic DDH [2,3], which occurs prenatally. In syndromic types, DDH can be a part of many or only a sole manifestation of skeletal dysplasia [4–6], or it may be present in conjunction with other malformations, e.g., pes equinovarus and acetabular labrum abnormalities. Syndromic dysplasia exists also in association with different pathologies such as Down’s Medicina 2020, 56, 153; doi:10.3390/medicina56040153 www.mdpi.com/journal/medicina Medicina 2020, 56, 153 22 ofof 1211 acetabular labrum abnormalities. Syndromic dysplasia exists also in association with different syndromepathologies and such neurogenic as Down’s [7], renalsyndrome or cardiovascular and neurogenic abnormalities. [7], renal Nonsyndromicor cardiovascular DDH abnormalities. is diagnosed asNonsyndromic an isolated condition DDH is diagnosed and its genetic as an componentisolated condition is targeted and byits scientists.genetic component Studiesconducted is targeted onby familiesscientists. with Studies multiple conducted individuals on families diagnosed with with multiple DDH have individuals identified diagnosed different chromosomewith DDH have loci thatidentified are associated different withchromosome the occurrence loci that of are this associated disorder. with These the are occurrence mainly variants of this ofdisorder. genes whose These productsare mainly are structuralvariants of factors genes of whose connective products tissue, are genes structural involved factors in osteo- of and connective chondrogenesis, tissue, genesgenes associatedinvolved in with osteo the- formationand chondrogenesis, of joint structures genes andassociated genes forwith chemokine the formation receptors. of joint Figure structures1. presents and thegenes position for chemokine of the femur receptors and femoral. Figure head 1. presents for a subluxated the position hip jointof the aff femurected byand DDH femoral and ahead hip jointfor a insubluxated physiological hip joint position, affected respectively. by DDH and a hip joint in physiological position, respectively. FigureFigure 1.1. ((AA)) Dysplastic Dysplastic acetabulum acetabulum with with a subluxatedsubluxated femoralfemoral head;head; ((B)) AcetabulumAcetabulum inin physiologicalphysiological position.position. 2. Etiopathogenesis 2. Etiopathogenesis DespiteDespite thethe long history of this this disorder disorder and and the the many many specialists specialists involved involved in in this this topic, topic, there there is isstill still little little knowledge knowledge about about the the exact exact etiopathogenesis etiopathogenesis of of DDH. DDH. This This is is mainly mainly due due to the genetic,genetic, mechanicalmechanical andand environmental environmental risk risk factors factor whichs which define define the multifactorialthe multifactorial etiopathogenesis etiopathogenesis of DDH. of TheDDH hip. The joint hip begins joint tobegins develop to develop physiologically physiologically from mesenchymal from mesenchymal cells as earlycells as early the fifth as orthe sixth fifth gestationalor sixth gestational week. By week. the eleventh By the week,eleven theth week, femoral the head femoral is completely head is completely formed [8], formed and in the [8] coming, and in weeksthe coming it undergoes weeks ait more undergoes rapid growth a more than rapid the growth acetabular than cartilage, the acetabular causing aboutcartilage, 50% causing of the femoral about cartilage50% of the to befemoral present cartilage at the time to ofbebirth, present but at in the postnataltime of birth, period, but the in cartilage the postnatal begins period, to develop the muchcartilage faster. begins If laxity to develop of the femoralmuch faster. head isIf presentlaxity of after the femoral birth, Neonatal head is Hippresent Instability after birth (NHI),Neonatal can be diagnosed.Hip Instability This (NHI) instability can be is usuallydiagnosed. present This for instability the first few is usually weeks ofpresent life, has for a mildthe first course few and weeks up toof 88%life, ofhas cases a mild of NHIscourse have and aup spontaneous to 88% of cases resolution of NHIs by thehave eighth a spontaneous week of life resolution [9]. by the eighth weekPersistent of life [9]. joint instability can be caused by a disorder of reflex contraction in soft tissues, which, underPersistent physiological joint circumstances, instability can fixates be caused the hip by joint a disorder until six monthsof reflex of contraction age. After thein sixthsoft tissues month,, spontaneouswhich, under resolution physiological is very circumstances unlikely [1,] fixates and the the child hip needsjoint until intervention. six months Persistent of age. After laxity the of thesixth capsule, month, subluxation spontaneous and resolution/or dislocation is very leadunlikely to progressive [1] and the dysplasticchild needs changes intervention which,. P withoutersistent therapy,laxity of can the cause capsule, lasting subluxation consequences, and/or especially dislocation in the lead case to of progressive a persistent dysplastic dysplasia untilchanges adulthood. which, Persistentwithout therapy, dysplasia can over cause time lasting causes consequences, alterations in bodyespecially position in andthe gaitcase [10of ].a Reportspersiste ofnt unilateraldysplasia dysplasiauntil adulthood. are more Persistent severe than dysplasia bilateral over because time the causes muscle alterations strength in thebody aff ectedposition limb and is graduallygait [10]. aReportsffected [11of ].unilateral Over time, dysplasia the limb are deforms more in severe the form than of bilateral shortening, because either the from muscle cartilage strength reduction in the or otheraffected degenerative limb is gradually joint disease, affected and thus[11]. results Over intime postural, the limb scoliosis, deforms back in pain the and form gradual of shortening, disability ofeither the patient.from cartilage reduction or other degenerative joint disease, and thus results in postural scoliosis, back pain and gradual disability of the patient. Medicina 2020, 56, 153 3 of 12 3. Epidemiology Ultrasound screening and monitoring of families with DDH history contributed to early DDH diagnosis and therefore earlier treatment, which over time led to a rapid decrease in THAs [12]. In case of late diagnosis, chances of long-term
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