{"orpha":498488,"name":"Overgrowth syndrome with 2q37 translocation","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-498488/","orphanet_url":"https://www.orpha.net/en/disease/detail/498488","names":{"fr":{"name":"Syndrome de croissance excessive avec translocation 2q37","definition":"Syndrome rare de croissance excessive avec atteinte osseuse, caractérisé par un habitus élancé et de multiples malformations squelettiques (scoliose, macrodactylie des gros orteils, arachnodactylie des doigts et des orteils, camptodactylie et clinodactylie, et déformations progressives en valgus des pieds). Une dysplasie épimétaphysaire, des tibias courbés et une dysmorphie faciale (hypertélorisme, palais ogival ou micrognathie), ainsi qu'une dilatation de la racine aortique et une hernie ombilicale ont également été rapportés."},"de":{"name":"Großwuchs-Syndrom mit Translokation 2q37","definition":"Ein seltenes Grosswuchssyndrom mit Skelettbeteiligung, das durch einen langen und schlanken Körperhabitus und multiple Skelettmanifestationen wie Skoliose, Makrodaktylie der Grosszehen, Arachnodaktylie der Finger und Zehen, Kamptodaktylie und Klinodaktylie sowie progressive Valgusfehlbildungen der Füsse gekennzeichnet ist. Auch Epimetaphysendysplasie, Schienbeinverkrümmung und Gesichtsdysmorphien (Hypertelorismus, hoher Gaumen oder Mikrognathie) sowie Aortenwurzelerweiterung und Nabelbrüche wurden berichtet."},"es":{"name":"Síndrome de sobrecrecimiento con translocación 2q37","definition":"Es un síndrome poco frecuente de sobrecrecimiento con afectación esquelética caracterizado por un hábito corporal alto y delgado y múltiples manifestaciones esqueléticas, como escoliosis, macrodactilia en los primeros dedos del pie, aracnodactilia de los dedos de las manos y de los pies, camptodactilia y clinodactilia, así como pie valgo progresivo. También se ha descrito displasia epimetafisaria, incurvación de la tibia y rasgos faciales dismórficos (hipertelorismo, paladar ojival o micrognatia), así como dilatación de la raíz aórtica y hernia umbilical."},"it":{"name":"Iperaccrescimento associato a traslocazioni in 2q37","definition":"Si tratta di un iperaccrescimento raro con interessamento scheletrico, caratterizzato da habitus allungato ed esile, e da sintomi scheletrici (scoliosi, macrodattilia degli alluci, aracnodattilia delle mani e dei piedi, camptodattilia, clinodattilia e deformità in valgismo progressive dei piedi). I pazienti possono presentare anche displasia epimetafisaria, incurvamento delle tibie e dismorfismi facciali (ipertelorismo, palato ogivale e micrognazia), dilatazione della radice dell'aorta ed ernia ombelicale."},"nl":{"name":"Overgroeisyndroom met 2q37 translocatie","definition":"Een zeldzaam overgroeisyndroom met betrokkenheid van skelet, gekarakteriseerd door een lange en tengere gestalte en multipele skeletmanifestaties, zoals scoliose, macrodactylie van de grote tenen, arachnodactylie van vingers en tenen, camptodactylie en clinodactylie, en progressieve valgusmisvormingen van de voeten. Epimetafysaire dysplasie, kromstand van tibiae, en dysmorfe gelaatskenmerken (hypertelorisme, hoog verhemelte, of micrognathie), alsook dilatatie van aortawortel en navelbreuk werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de sobrecrescimento com translocação 2q37"},"pl":{"name":"Zespół nadmiernego wzrostu z translokacją 2q37"},"cs":{"name":"Overgrowth syndrom s translokací 2q37"},"uk":{"name":"Синдром надмірного росту з транслокацією 2q37","definition":"A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported."},"zh":{"name":"过度生长综合征合并2q37易位"},"tr":{"name":"2q37 translokasyonu ile seyreden aşırı büyüme sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2C","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0034676","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567236","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":263708,"name":"Complex chromosomal rearrangement syndrome","classifications":[147,156]},{"orpha":498448,"name":"Overgrowth or tall stature syndrome with skeletal involvement","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"25728306[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25728306[PMID]"}],"phenotypes":null}