{"orpha":508512,"name":"Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-508512/","orphanet_url":"https://www.orpha.net/en/disease/detail/508512","names":{"fr":{"name":"Syndrome de retard de croissance intra-utérin-taches café-au-lait-augmentation du taux d'échanges entre chromatides soeurs","definition":"Maladie génétique rare, caractérisée par la présence de multiples taches café-au-lait et par l'augmentation des taux d'échanges entre chromatides soeurs détectée par tests cytogénétiques. Un retard de croissance intra-utérin et postnatal associé à une petite taille, une microcéphalie, un léger retard de développement, une cardiomyopathie et un reflux gastro-oesophagien symptomatique ont également été décrits, mais l'éruption malaire n'est généralement pas observée."},"de":{"name":"Intrauterine Wachstumsverzögerung-kongenitale multiple Café-au-lait-Flecken-gesteigerter Schwesterchromatid-Austausch-Syndrom","definition":"Eine seltene genetische Erkrankung, die durch das Vorhandensein multipler Café-au-lait-Flecken und eine erhöhte Rate des Schwesterchromatidaustauschs bei zytogenetischen Untersuchungen gekennzeichnet ist. Prä- und postnatale Wachstumsretardierung mit Kleinwuchs, Mikrozephalie, leichter Entwicklungsverzögerung, Kardiomyopathie und symptomatischem gastroösophagealem Reflux wurden ebenfalls beschrieben, während ein malarer Ausschlag typischerweise fehlt."},"es":{"name":"Síndrome de restricción del crecimiento intrauterino-múltiples máculas café con leche congénitas-elevada tasa de intercambio entre cromátidas hermanas","definition":"Es una enfermedad de base genética poco frecuente caracterizada por la presencia de múltiples máculas de color café con leche y una tasa elevada de intercambio de cromátidas hermanas evidenciada en las pruebas citogenéticas. También se han descrito deficiencias de crecimiento pre- y postnatal con talla baja, microcefalia, retraso leve del desarrollo, miocardiopatía y reflujo gastroesofágico sintomático, mientras que la erupción malar suele estar ausente."},"it":{"name":"Sindrome da ritardo della crescita prenatale, macchie caffè-latte congenite multiple, aumento degli scambi tra cromatidi fratelli","definition":"Si tratta di una malattia genetica rara, caratterizzata da macchie caaffè-latte multiple e numeri elevati di scambi tra i cromatidi fratelli, evidenziati dalle analisi citogenetiche. I pazienti possono presentare anche ritardo della crescita pre- e postnatale, bassa statura, microcefalia, lieve ritardo dello sviluppo, cardiomiopatia e reflusso gastroesofageo sintomatico. Di solito non si associa ad eruzione malare."},"nl":{"name":"Intra-uteriene groeirestrictie - congenitale multipele café-au-lait vlekken - verhoogde uitwisseling van zusterchromatiden-syndroom","definition":"Een zeldzame, genetische aandoening, gekenmerkt door de aanwezigheid van multipele café-au-lait maculae en een verhoogd aantal uitwisselingen tussen zusterchromatiden aangetoond door cytogenetisch onderzoek. Pre- en postnatale groeideficiëntie met kleine gestalte, microcefalie, milde ontwikkelingsachterstand, cardiomyopathie, en symptomatische gastro-oesofageale reflux werden ook reeds beschreven, terwijl vlindervormige huiduitslag op de wangen doorgaans afwezig is."},"pt":{"name":"Síndrome de restrição de crescimento intra-uterino-máculas café com leite múltiplas congénitas-incremento de trocas entre cromátides irmãs","definition":"Doença genética rara caracterizada pela presença de múltiplas máculas café-au-lait e um nível elevado de troca de cromátides irmãs evidenciadas nos exames citogenéticos. Atraso de crescimento pré e pós-natal com baixa estatura, microcefalia, perturbação do desenvolvimento intelectual leve, cardiomiopatia e refluxo gastroesofágico sintomático também foram descritos, enquanto que a erupção malar está habitualmente ausente."},"pl":{"name":"Zespół wrodzonych, licznych plam typu café-au-lait i zwiększonej wymiany chromatyd siostrzanych"},"cs":{"name":"Syndrom zahrnující vrozené četné skvrny barvy bílé kávy a zvýšenou výměnu mezi sesterskými chromatidami"},"uk":{"name":"Синдром внутрішньоутробної затримки росту-вроджених множинних макулопатій-підвищеного обміну сестринських хроматид","definition":"A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent."},"zh":{"name":"先天性多发性咖啡斑-姐妹染色体交换增多综合征"},"tr":{"name":"Doğumsal çoklu cafe-au-lait maküller-artmış kardeş kromatid değişim sendromu"}},"xrefs":[{"source":"OMIM","code":"618097","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"KA20.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0034991","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567901","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]}],"children":[],"genes":[{"symbol":"RMI2","name":"RecQ mediated genome instability 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27977684[PMID]","hgnc":"28349","ensembl":"ENSG00000175643","omim":"612426","loci":["16p13.13"]},{"symbol":"TOP3A","name":"DNA topoisomerase III alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30057030[PMID]","hgnc":"11992","ensembl":"ENSG00000177302","omim":"601243","loci":["17p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"27977684[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27977684[PMID]"}],"phenotypes":null}