{"orpha":404476,"name":"Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["GLOW syndrome"],"definition":"Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome is a rare, genetic, overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-404476/","orphanet_url":"https://www.orpha.net/en/disease/detail/404476","names":{"fr":{"name":"Syndrome de retard de développement-kystes pulmonaires-croissance excessive-tumeur de Wilms","synonyms":["Syndrome GLOW"],"definition":"Syndrome rare avec croissance excessive d'origine génétique caractérisé par un retard global de développement, une macrosomie suivie d'une croissance excessive somatique, des lésions kystiques pulmonaires bilatérales, une néphromégalie congénitale et par une tumeur de Wilms bilatérale. La dysmorphie craniofaciale comprend une macrocéphalie, un front proéminent, une fontanelle antérieure très large, un léger hypertélorisme, un sinus préauriculaire, un pont nasal plat, des narines antéversées et une légère micrognathie. Les autres caractéristiques peuvent inclure des anomalies cérébrales et squelettiques, un abdomen protubérant, des coussinets adipeux sur le dos des pieds et des orteils, une plante des pieds rugueuse avec des plis cutanés, ainsi qu'une hernie ombilicale/inguinale et un comportement de type autistique."},"de":{"name":"Allgemeine Entwicklungsverzögerung-Lungenzysten-Großwuchs-Wilms-Tumor-Syndrom","synonyms":["GLOW-Syndrom"]},"es":{"name":"Síndrome de retraso global del desarrollo-quistes pulmonares-sobrecrecimiento-tumor de Wilms","synonyms":["Síndrome GLOW"],"definition":"El síndrome de retraso global del desarrollo - quistes pulmonares - sobrecrecimiento - tumor de Wilms es un síndrome genético de sobrecrecimiento poco frecuente caracterizado por retraso global del desarrollo, macrosomía con hipercrecimiento somático posterior, lesiones pulmonares quísticas bilaterales, nefromegalia congénita y tumor de Wilms bilateral. La dismorfia craneofacial incluye macrocefalia, frente prominente, fontanela anterior agrandada, leve hipertelorismo, fositas preauriculares, puente nasal plano, narinas antevertidas y leve micrognatia. Otras características adicionales pueden incluir anomalías cerebrales y esqueléticas, abdomen protuberante agrandado, almohadillas de grasa en el dorso de los pies y dedos de los pies y plantas rugosas con pliegues, así como hernia umbilical / inguinal y comportamiento autista."},"it":{"name":"Sindrome da ritardo dello sviluppo globale, cisti polmonari, iperaccrescimento e tumore di Wilms","synonyms":["Sindrome GLOW"],"definition":"La sindrome che associa il ritardo dello sviluppo globale, le cisti polmonari, l'iperaccrescimento e il tumore di Wilms è una malattia genetica rara da iperaccrescimento, caratterizzata da ritardo dello sviluppo globale, macrosomia con conseguente iperaccrescimento somatico, lesioni cistiche polmonari bilaterali, nefromegalia congenita e tumore di Wilms. I dismorfismi craniofacciali comprendono la macrocefalia, la fronte bombata, la fontanella anteriore ampia, il lieve ipertelorismo, le fossette auricolari, la sella nasale piatta, le narici anteverse e la lieve micrognazia. Altri segni clinici sono le anomalie cerebrali e scheletriche, l'addome ingrossato e prominente, i cuscinetti di grasso sul dorso dei piedi e delle dita dei piedi, la pianta dei piedi rugosa con pliche cutanee, l'ernia ombelicale/inguinale e i tratti autistici."},"nl":{"name":"Algehele ontwikkelingsachterstand - longcysten - overgroei - Wilmstumor-syndroom","synonyms":["GLOW-syndroom"],"definition":"Algehele ontwikkelingsachterstand - longcysten - overgroei - Wilmstumor-syndroom is een zeldzaam, genetisch, overgroeisyndroom dat gekarakteriseerd wordt door algehele ontwikkelingsachterstand, macrosomie gevolgd door somatische overgroei, bilaterale cystische longletsels, congenitale nefromegalie en bilaterale Wilmstumor. Craniofaciale dysmorfie omvat onder meer macrocefalie, boller voorhoofd, groot anterieur fontanel, mild hypertelorisme, oorfistel, platte neusbrug, anteversie van de neusgaten en milde micrognathie. Mogelijke bijkomende kenmerken zijn onder meer hersen- en skeletanomalieën, vergroot uitpuilend abdomen, vetkussens op de rug van voeten en tenen, en gerimpelde zolen met huidplooien, alsook hernia umbilicalis/inguinalis en autistisch gedrag."},"pt":{"name":"Síndrome de perturbação do desenvolvimento global-quistos pulmonares-sobrecrescimento-tumor de Wilms"},"pl":{"name":"Zespół całościowego opóźnienia w rozwoju, torbieli płucnych, przerostu ciała i guza Wilmsa","synonyms":["Zespół GLOW"],"definition":"*Zespół całościowego opóźnienia rozwoju, torbieli płucnych, przerostu ciała i guza Wilmsa jest rzadkim, genetycznie uwarunkowanym zespołem z przerostem ciała, który charakteryzuje się całościowym opóźnieniem rozwoju, makrosomią z następczym przerostem, ciała, obustronnymi torbielowatymi zmianami płuc, wrodzoną nefromegalią i obustronnym guzem Wilmsa. Dysmorfia twarzoczaszki obejmuje wielkogłowie, wypukłe czoło, duże ciemiączko przednie, łagodny hiperteloryzm, dołki w obrębie uszu, płaski grzbiet nosa, zadarty nos i łagodne małożuchwie. Mogą występować dodatkowe cechy takie jak: wady mózgu i układu kostnego, powiększony i wystający brzuch, poduszeczki tłuszczowe na grzbiecie i palcach stóp oraz pofałdowane podeszwy z fałdami skórnymi, a także przepuklina pępkowa/pachwinowa i zachowanie autystyczne.inf brsup"},"cs":{"name":"Syndrom zahrnující globální opoždění vývoje, cysty plic, nadměrný vzrůst a Wilmsův tumor","synonyms":["GLOW syndrom"]},"uk":{"name":"Синдром глобальної затримки розвитку-кісти легень-надмірного росту-пухлини Вільмса","synonyms":["Синдром GLOW"],"definition":"Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome is a rare, genetic, overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior."},"zh":{"name":"全面性发育迟缓-肺囊肿-过度生长-Wilms瘤综合征","synonyms":["GLOW综合征"],"definition":"全面发育迟缓-肺囊肿-过度生长-肾母细胞瘤综合征是一种罕见的遗传性过度生长综合征，其特征是全面发育迟缓，巨大儿伴随后期身体过度生长，双侧肺囊性病变，先天性肾肥大和双侧肾母细胞瘤。颅面畸形包括巨颅畸形，前额突触，前囟大，轻度器官间距过远，耳凹，鼻梁扁平，鼻孔弯曲和轻度小下颌畸形。其他特征可能包括脑部和骨骼异常，腹部膨大，脚和脚趾背部存在的脂肪垫，具有足底皮肤褶皱、脐带/肛门疝和自闭症行为。"},"tr":{"name":"Yaygın gelişme geriliği-akciğer kistleri-aşırı büyüme-Wilms tümör sendromu","synonyms":["GLOW sendromu"]}},"xrefs":[{"source":"OMIM","code":"618272","qualifier":"E","icd_relation":null,"validated":true},{"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":"0018445","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4748924","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":319328,"name":"Inherited renal cancer-predisposing syndrome","classifications":[156,188,202]},{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]}],"children":[],"genes":[{"symbol":"DICER1","name":"dicer 1, ribonuclease III","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"24676357[PMID]","hgnc":"17098","ensembl":"ENSG00000100697","omim":"606241","loci":["14q32.13"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24676357[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24676357[PMID]"}],"phenotypes":null}