{"orpha":1952,"name":"Epiphyseal stippling-osteoclastic hyperplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Pacman dysplasia"],"definition":"A rare primary bone dysplasia characterized by extensive epiphyseal, tarsal, spinal, and sometimes metacarpal and/or phalangeal stippling, severe generalized osteopenia, vertebral clefting, platyspondyly, bowing and shortening of the long bones, and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant, multinucleated osteoclasts lining Howship lacunae, consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1952/","orphanet_url":"https://www.orpha.net/en/disease/detail/1952","names":{"fr":{"name":"Syndrome épiphyses ponctuées-hyperplasie ostéoclastique","synonyms":["Dysplasie de Pacman"],"definition":"Dysplasie osseuse primaire rare caractérisée par des ponctuations épiphysaires, tarsiennes, vertébrales et parfois métacarpiennes et/ou phalangiennes étendues, une ostéopénie généralisée sévère, des fentes des corps vertébraux, une platyspondylie, des os longs courbés et raccourcis et un recouvrement périosté variable. L'analyse en laboratoire des enzymes lysosomales révèle une activité normale. L'histopathologie montre de nombreux ostéoclastes géants multinucléés qui tapissent les lacunes de Howship, compatibles avec une résorption osseuse accrue. La maladie se manifeste pendant la période prénatale et est probablement létale pendant la période périnatale."},"de":{"name":"Epiphysäre Tüpfelung-osteoklastische Hyperplasie-Syndrom","synonyms":["Pacman-Dysplasie"],"definition":"Eine seltene primäre Knochendysplasie, die durch ausgedehnte Tüpfelung an Epiphysen, Fußwurzelknochen, Wirbelsäule und manchmal auch an Mittelhandknochen und/oder Fingerknochen, schwere generalisierte Osteopenie, Wirbelspalten, Platyspondylie, O-Beine und Verkürzung der Röhrenknochen sowie variable Periostverkapselung gekennzeichnet ist. Die Laboranalyse der lysosomalen Enzyme zeigt eine normale Aktivität. Die Histopathologie zeigt zahlreiche riesige, mehrkernige Osteoklasten, die die Howship-Lakunen auskleiden, was mit einer erhöhten Knochenresorption übereinstimmt. Die Erkrankung manifestiert sich pränatal und ist vermutlich in der Perinatalperiode letal."},"es":{"name":"Síndrome de epífisis punteada-hiperplasia osteoclástica","synonyms":["Displasia de Pacman"],"definition":"Es una displasia ósea primaria poco frecuente caracterizada por un punteado extenso de las epífisis, tarso, vértebras y, en ocasiones, del metacarpiano y/o las falanges, osteopenia generalizada grave, hendidura vertebral, platispondilia, incurvación y acortamiento de los huesos largos y recubrimiento perióstico variable. El análisis bioquímico de las enzimas lisosomales revela una actividad normal. Los estudios histopatológicos muestran numerosos osteoclastos gigantes multinucleados que recubren las lagunas de Howship, lo que es compatible con un aumento de la resorción ósea. La afección se manifiesta prenatalmente y presumiblemente es letal en el período perinatal."},"it":{"name":"Sindrome delle epifisi punteggiate-iperplasia osteoclastica","synonyms":["Displasia di Pacman"]},"nl":{"name":"Epifysaire stippeling - osteoclastische hyperplasie-syndroom","synonyms":["Pacman-dysplasie"],"definition":"Een zeldzame primaire botdysplasie, gekenmerkt door uitgebreide epifysaire, tarsale, spinale, en soms metacarpale en/of falangeale stippeling, ernstige gegeneraliseerde osteopenie, gespleten wervels, platyspondylie, abnormaal kromme en korte pijpbeenderen, en variabele periostale omhulling ('cloaking'). Laboratoriumanalyse van lysosomale enzymen tonen normale activiteit. Histopathologie toont talrijke reuze, multinucleaire osteoclasten die lacunes van Howship bekleden, wat consistent is met verhoogde botresorptie. De aandoening manifesteert zich prenataal en is vermoedelijk letaal in de perinatale periode."},"pt":{"name":"Síndrome de epífises ponteadas-hiperplasia osteoclástica","synonyms":["Displasia Pacman"],"definition":"Displasia óssea primária rara caracterizada por extensas calcificações puntiformes epifisárias, tarsais, vertebrais e, por vezes, metacarpofalângicas e/ou falângicas, osteopenia generalizada grave, fissuras vertebrais, platispondilia, encurvamento e encurtamento dos ossos longos e reação periosteal (cloaking) variável. O estudo laboratorial das enzimas lisossomais demonstra uma atividade normal. A histopatologia mostra numerosos osteoclastos gigantes e multinucleados que revestem as lacunas de Howship, consistentes com aumento da reabsorção óssea. A doença manifesta-se no período pré-natal e é presumivelmente letal no período perinatal."},"pl":{"name":"Dysplazja Pacmana","synonyms":["Zespół kropkowatych nasad - hiperplazja osteoklastyczna"],"definition":"Rzadka pierwotna dysplazja kości charakteryzująca się obecnością rozległych zmian punktowych w nasadach kości, kościach stępu, kręgosłupa i niekiedy śródręcza i/lub paliczków, ciężką uogólnioną osteopenią, rozszczepem kręgów, płaskostopiem, wygięciem i skróceniem kości długich, w zmiennym stopniu pokrytych okostną. Analiza laboratoryjna enzymów lizosomalnych wskazuje na ich prawidłową aktywność. W badaniu histopatologicznym widoczne są liczne olbrzymie, wielojądrzaste osteoklasty wyściełające zatoki Howshipa, co koreluje ze zwiększoną resorpcją kości. Choroba objawia się w okresie prenatalnym i prawdopodobnie prowadzi do śmierci w okresie okołoporodowym."},"cs":{"name":"Pacman dysplázie","synonyms":["Syndrom zahrnující epifyzární tečkování a osteoklastickou hyperplázii"]},"uk":{"name":"Синдром епіфізарної смугасто-остеокластичної гіперплазії","synonyms":["Дисплазія Пакмана"],"definition":"A rare primary bone dysplasia characterized by extensive epiphyseal, tarsal, spinal, and sometimes metacarpal and/or phalangeal stippling, severe generalized osteopenia, vertebral clefting, platyspondyly, bowing and shortening of the long bones, and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant, multinucleated osteoclasts lining Howship lacunae, consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period."},"zh":{"name":"Pacman发育不良","synonyms":["点彩性骨骺综合征-破骨细胞增生综合征"]},"tr":{"name":"Pacman displazisi","synonyms":["Epifizyal benekleme sendromu-osteoklastik hiperplazi sendromu"]}},"xrefs":[{"source":"OMIM","code":"167220","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB86.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"519938437"},{"source":"MONDO","code":"0008175","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538095","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833676","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4189","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93449,"name":"Primary osteolysis","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"12709756[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12709756[PMID]"}],"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:0002683","label":"Abnormality of the calvaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003417","label":"Coronal cleft vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010655","label":"Epiphyseal stippling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005716","label":"Lethal skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100670","label":"Rough bone trabeculation","frequency":"Very frequent (99-80%)","criteria":null}]}}