{"orpha":240760,"name":"Nijmegen breakage syndrome-like disorder","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Microcephaly and chromosomal instability without immunodeficiency","NBS-like disorder","NBSLD","RAD50 deficiency"],"definition":"Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-240760/","orphanet_url":"https://www.orpha.net/en/disease/detail/240760","names":{"fr":{"name":"Syndrome de Nijmegen-like","synonyms":["Déficit en RAD50","Microcéphalie et instabilité chromosomique sans immunodéficience","NBSLD","Syndrome de Nimègue-like"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare, d'origine génétique, caractérisé par un retard de croissance, une petite taille, un retard de développement, une déficience intellectuelle, une dysmorphie craniofaciale (microcéphalie sévère, front fuyant, grands yeux, arête nasale large, hypoplasie du septum nasal, épicanthus), une instabilité chromosomique spontanée, une hypersensibilité cellulaire aux radiations ionisantes et une radiorésistance de la réplication de l'ADN, sans infections sévères, immunodéficience ou prédisposition au cancer. Les autres caractéristiques rapportées sont une spasticité légère, une ataxie légère et non progressive, une hypermétropie, de multiples nævi pigmentés, des mamelons très espacés et une clinodactylie."},"de":{"name":"Nijmegen-Breakage-Syndrom-ähnliche Krankheit","definition":"Ein seltenes, genetisch bedingtes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch Wachstumsretardierung, Kleinwuchs, Entwicklungsverzögerung, Intelligenzminderung und kraniofazialen Dysmorphien (schwere Mikrozephalie, schräge Stirn, hervortretende Augen, breiter Nasenrücken, hypoplastische Nasenscheidewand, Epikanthusfalten) gekennzeichnet ist. Das Syndrom geht einher mit spontaner chromosomaler Instabilität, zellulärer Überempfindlichkeit gegenüber ionisierender Strahlung und strahlungsresistenter DNA-Synthese, jedoch ohne schwere Infektionen, Immunschwäche oder Krebsprädisposition. Zu den weiteren berichteten Merkmalen gehören leichte Spastik, leichte und nicht-progressive Ataxie, Hyperopie, multiple pigmentierte Nävi, weit auseinander liegende Brustwarzen und Klinodaktylie."},"es":{"name":"Trastorno similar al síndrome de rotura de Nijmegen","synonyms":["Deficiencia de RAD50","Microcefalia e inestabilidad cromosómica sin inmunodeficiencia","Trastorno tipo NBS"],"definition":"Es un síndrome dismórfico de múltiples anomalías congénitas, genético y poco frecuente, caracterizado por retraso del crecimiento, talla baja, retraso en el desarrollo, discapacidad intelectual, dismorfia craneofacial (incluyendo grave microcefalia, frente inclinada, ojos prominentes, cresta nasal ancha, tabique nasal hipoplásico, epicanto), inestabilidad cromosómica espontánea, hipersensibilidad celular a la radiación ionizante y síntesis de ADN radiorresistente, sin infecciones graves, inmunodeficiencia o predisposición al cáncer. Otras características adicionales descritas incluyen ligera espasticidad, ataxia leve y no progresiva, hipermetropía, nevos múltiples pigmentados, pezones ampliamente separados y clinodactilia."},"it":{"name":"Malattia simile alla sindrome da rotture cromosomiche di Nijmegen","synonyms":["Deficit di RAD50","Disturbo NBS-simile","Microcefalia e instabilità cromosomica senza immunodeficienza","NBSLD"],"definition":"La malattia simile alla sindrome da rotture cromosomiche di Nijmegen è una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo della crescita, bassa statura, ritardo dello sviluppo, disabilità intellettiva, dismorfismi craniofacciali (grave microcefalia, fronte spiovente, occhi prominenti, sella nasale ampia, setto nasale ipoplastico, epicanto), instabilità cromosomica spontanea, ipersensibilità delle cellule alle radiazioni ionizzanti e sintesi del DNA radioresistente, in assenza di infezioni gravi, immunodeficienza o predisposizione ai tumori. Altri segni clinici sono la lieve spasticità, una lieve atassia non progressiva, l'iperopia, la presenza di nevi pigmentati multipli, i capezzoli iperdistanziati e la clinodattilia."},"nl":{"name":"Nijmegen-breuksyndroom-achtige aandoening","synonyms":["Microcefalie en chromosomale instabiliteit zonder immuundeficiëntie","NBS-achtige aandoening","NBSLD","RAD50-deficiëntie"],"definition":"Nijmegen breuksyndroom-achtige stoornis is een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door groeiretardatie, kleine gestalte, ontwikkelingsachterstand, intellectuele achterstand, craniofaciale dysmorfie (i.e. ernstige microcefalie, hellend voorhoofd, opvallende ogen, brede neusrug, hypoplastisch neustussenschot, epicanthusplooien), spontane chromosomale instabiliteit, cellulaire hypersensitiviteit voor ioniserende straling en radioresistente DNA-synthese, zonder ernstige infecties, immuundeficiëntie of kankerpredispositie. Bijkomende kenmerken die werden gerapporteerd, zijn onder meer milde spasticiteit, lichte en niet-progressieve ataxie, hyperopie, multipele gepigmenteerde naevi, ver uit elkaar staande tepels, en clinodactylie."},"pt":{"name":"Doença síndrome de quebras de Nijmegen-like"},"pl":{"name":"Zaburzenie podobne do zespołu Nijmegen","synonyms":["Małogłowie i niestabilność chromosomalna bez niedoboru odporności","NBSLD","Niedobór RAD50","Zaburzenie podobne do NBS"],"definition":"*Zaburzenie podobne do zespołu Nijmegen jest rzadkim, genetycznie uwarunkowanym, wrodzonym zespołem licznych wad/zespołem dysmorficznym, który charakteryzuje się opóźnieniem wzrastania, niskim wzrostem, opóźnieniem rozwoju, niepełnosprawnością intelektualną, dysmorfią twarzoczaszki (w tym znacznym małogłowiem, pochyłym czołem, wydatnymi oczami, szerokim grzbietem nosa, hipoplastyczną przegrodą nosa, zmarszczkami nakątnymi), spontaniczną niestabilnością chromosomową, nadwrażliwością komórkową na promieniowanie jonizujące i oporną na promieniowanie syntezą DNA, bez towarzyszących poważnych infekcji, niedoboru odporności lub predyspozycji do chorób nowotworowych. Dodatkowo zgłaszane objawy to łagodna spastyczność, niewielka i niepostępująca ataksja, nadwzroczność, liczne znamiona barwnikowe, szeroko rozstawione brodawki sutkowe i klinodaktylia."},"cs":{"name":"Porucha podobná nijmegenskému breakage syndromu","synonyms":["Mikrocefalie a chromozomální nestabilita bez imunodeficience","NBS-like disorder","NBSLD","RAD50"]},"uk":{"name":"Захворювання, подібне до синдрому Неймегена","synonyms":["Мікроцефалія та хромосомна нестабільність без імунодефіциту","NBSLD","NBS-подібний розлад","Дефіцит RAD50"],"definition":"Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly."},"zh":{"name":"奈梅亨断裂综合征样障碍","synonyms":["小头畸形和染色体不稳定不伴免疫缺陷"],"definition":"Nijmegen断裂样综合征是一种罕见的遗传性多发性先天性异常/畸形综合征，其特征是生长迟缓、身材矮小、发育迟缓、智力残疾、颅面畸形（即严重的小头畸形、前额倾斜、眼睛突出、鼻嵴宽大、鼻中隔发育不良、内眦赘皮）、自然染色体不稳定，对电离辐射的细胞性超敏反应和抗辐射DNA合成，无严重感染、免疫缺陷或癌症倾向。其他报道的特征包括轻度痉挛，轻度和非进展性共济失调，远视，多发性色素痣，乳头间距大和先天性指（趾）侧弯。"},"tr":{"name":"Nijmegen kırılma sendromu-benzeri bozukluk","synonyms":["NBSLD","RAD50 eksikliği","NBS-benzeri bozukluk","İmmün yetmezlik olmayan mikrosefali ve kromozomal instabilitesi"]}},"xrefs":[{"source":"OMIM","code":"613078","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.31","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1014526672"},{"source":"MONDO","code":"0013118","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567767","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2751318","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":169346,"name":"DNA repair defect other than combined T-cell and B-cell immunodeficiencies","classifications":[156,195,233]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]}],"children":[],"genes":[{"symbol":"MRE11","name":"MRE11 double strand break repair nuclease","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21227757[PMID]","hgnc":"7230","ensembl":"ENSG00000020922","omim":"600814","loci":["11q21"]},{"symbol":"RAD50","name":"RAD50 double strand break repair protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19409520[PMID]","hgnc":"9816","ensembl":"ENSG00000113522","omim":"604040","loci":["5q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"1887849[PMID]_19409520[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1887849[PMID]_19409520[PMID]"}],"phenotypes":null}