{"orpha":2114,"name":"Hip dysplasia, Beukes type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BFHD","Beukes familial hip dysplasia","Cilliers-Beighton syndrome","Premature degenerative osteoarthropathy of the hip"],"definition":"A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2114/","orphanet_url":"https://www.orpha.net/en/disease/detail/2114","names":{"fr":{"name":"Dysplasie de la hanche type Beukes","synonyms":["BFHD","Dysplasie familiale de la hanche type Beukes","Ostéoarthropathie dégénérative précoce de la hanche","Syndrome de Cilliers-Beighton"],"definition":"Dysplasie osseuse primaire caractérisée par une arthropathie dégénérative précoce de la hanche. La maladie se manifeste par une gêne/douleur articulaire de la hanche et des troubles de la marche qui se développent généralement pendant l'enfance et évoluent vers une incapacité fonctionnelle sévère et une mobilité réduite au début de l'âge adulte. L'atteinte des corps vertébraux et des autres articulations est minime, la taille n'est pas significativement réduite et l'état de santé général est préservé. L'examen radiographique met en évidence un aplatissement et une irrégularité des têtes fémorales et une ostéoarthropatie dégénérative au niveau de l'articulation de la hanche mise en évidence par la présence de kystes périarticulaires, de sclérose et de réduction de l'espace articulaire."},"de":{"name":"Hüftdysplasie Typ Beukes","synonyms":["Cilliers-Beighton-Syndrom"],"definition":"Eine primäre Knochendysplasie, die durch eine vorzeitige degenerative Arthropathie der Hüfte gekennzeichnet ist. Die Krankheit manifestiert sich mit Beschwerden/Schmerzen im Hüftgelenk und Gangstörungen, die sich in der Regel in der Kindheit entwickeln und bis zum frühen Erwachsenenalter zu schweren funktionellen Behinderungen und eingeschränkter Mobilität führen. Die Beteiligung der Wirbelkörper und anderer Gelenke ist minimal, die Körpergröße ist nicht signifikant reduziert und der allgemeine Gesundheitszustand ist unbeeinträchtigt. Radiologisch sind die Hüftgelenkköpfe abgeflacht und unregelmäßig, in den Hüftgelenken entwickelt sich eine degenerative Arthrose mit periartikulären Zysten, Sklerose und Gelenkspaltverengung."},"es":{"name":"Displasia de cadera tipo Beukes","synonyms":["Síndrome de Cilliers-Beighton"],"definition":"Es una displasia ósea primaria caracterizada por artropatía degenerativa precoz de caderas. La enfermedad presenta molestias/dolor en la articulación de la cadera y trastornos de la marcha que, por lo general, se desarrollan en la infancia y que progresan a discapacidad funcional grave y movilidad limitada en la edad adulta temprana. La afectación de los cuerpos vertebrales y otras articulaciones es mínima, la talla no está significativamente reducida y el estado general de salud no se ve alterado. Radiológicamente, las cabezas femorales aparecen aplanadas e irregulares y la osteoartritis degenerativa se desarrolla en las articulaciones de la cadera, como lo evidencia la presencia de quistes periarticulares, esclerosis y estrechamiento del espacio articular."},"it":{"name":"Displasia delle anche, tipo Beukes","synonyms":["Sindrome di Cilliers-Beighton"],"definition":"La displasia familiare dell'anca tipo Beukes (BFHD) è una displasia ossea primitiva caratterizzata da artropatia degenerativa prematura dell'anca. La malattia esordisce con fastidio/dolore a livello dell'articolazione dell'anca e anomalie della deambulazione che di solito si evidenziano durante l'infanzia, per progredire verso la grave disabilità funzionale e la riduzione della mobilità all'inizio dell'età adulta. I corpi vertebrali e le altre articolazioni sono minimamente interessati, l'altezza non va incontro a riduzioni significative e lo stato generale della salute non è compromesso. Radiograficamente le teste del femore risultano appiattite con osteoartrite irregolare e degenerativa a livello delle articolazioni dell'anca, che si estrinseca con cisti periarticolari, sclerosi e restringimento dello spazio articolare."},"nl":{"name":"Heupdysplasie, Beukes-type","synonyms":["BFHD","Familiale heupdysplasie, Beukes-type","Syndroom van Cilliers-Beighton","Vroegtijdige degeneratieve osteoartropathie van heup"],"definition":"Een primaire botdysplasie, gekenmerkt door premature degeneratieve artropathie van heup. De ziekte uit zich met ongemak/pijn van heupgewricht en loopstoornissen die meestal ontwikkelen in de kindertijd en die evolueren tot ernstige functionele invaliditeit en beperkte beweeglijkheid tegen de vroege volwassenheid. Betrokkenheid van wervellichamen en andere gewrichten is minimaal, de lichaamslengte is niet significant verminderd, en de algemene gezondheid wordt niet aangetast. Radiografisch zijn femurkoppen afgevlakt en onregelmatig, en ontstaat er osteoartritis in heupgewricht, zoals blijkt uit de aanwezigheid van peri-articulaire cysten, sclerose, en vernauwing van gewrichtsruimte."},"pt":{"name":"Displasia da anca, tipo Beukes","synonyms":["Síndrome Cilliers-Beighton"]},"pl":{"name":"Dysplazja stawu biodrowego typu Beukesa","synonyms":["BFHD","Przedwczesna osteoartropatia zwyrodnieniowa stawu biodrowego","Rodzinna dysplazja stawów biodrowych Beukesa","Zespół Cilliersa i Beightona"],"definition":"Pierwotna dysplazja kości, charakteryzująca się przedwczesną artropatią zwyrodnieniową stawu biodrowego. Choroba objawia się dyskomfortem/bólem stawu biodrowego i zaburzeniami chodu, które zwykle rozwijają się w dzieciństwie i prowadzą do ciężkiej niepełnosprawności funkcjonalnej i ograniczenie ruchomości we wczesnej dorosłości. Zajęcie trzonów kręgów i innych stawów jest minimalne, wzrost nie jest istotnie zmniejszony, a ogólny stan zdrowia nie ulega pogorszeniu. W obrazie radiologicznym głowy kości udowych są spłaszczone i nieregularne, a w stawach biodrowych rozwija się zwyrodnienie, o czym świadczy obecność torbieli okołostawowych, stwardnienia w kościach i zwężenia szpar stawowych."},"cs":{"name":"Dysplázie kyčelního kloubu, typ Beukesových","synonyms":["BFHD","Rodinná dysplázie kyčlí (Beukes)","Cilliersův-Beightonův syndrom","Předčasná degenerativní osteoartropatie kyčlí","Cilliers-Beightonův syndrom"]},"uk":{"name":"Дисплазія кульшових суглобів, тип Бейкеса","synonyms":["Сімейна дисплазія кульшових суглобів Beukes","BFHD","Синдром Сільєра-Бейтона","Передчасна дегенеративна остеоартропатія кульшового суглоба"],"definition":"A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing."},"zh":{"name":"髋关节发育不良，Beukes型","synonyms":["髋关节发育不良，Beukes型"]},"tr":{"name":"Kalça displazisi, Beukes tipi","synonyms":["BFHD","Cilliers-Beighton sendromu","Beukes ailesel kalça displazisi","Kalçanın erken dejeneratif osteoartropatisi"]}},"xrefs":[{"source":"OMIM","code":"142669","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q65.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.6Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2011419868"},{"source":"MONDO","code":"0007726","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564185","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1840572","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2690","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"UFSP2","name":"UFM1 specific peptidase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"25640","ensembl":"ENSG00000109775","omim":"611482","loci":["4q35.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011849","label":"Abnormal bone ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009107","label":"Abnormal ossification involving the femoral head and neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004348","label":"Abnormality of bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010574","label":"Abnormality of the epiphysis of the femoral head","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006429","label":"Broad femoral neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}