{"orpha":280558,"name":"Warsaw breakage syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["WABS"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by pre- and postnatal growth restriction, microcephaly, mild to severe intellectual disability, sensorineural hearing loss with cochlear abnormalities, and facial dysmorphism (with small and elongated face, bifrontal narrowing, epicanthus, short nose, small nares, dysplastic ears, and short neck). Additional variable features include limb malformations, cardiac anomalies, abnormal skin pigmentation, and recurrent infections, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280558/","orphanet_url":"https://www.orpha.net/en/disease/detail/280558","names":{"fr":{"name":"Syndrome de cassure chromosomique de Varsovie","synonyms":["WABS"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par un retard de croissance pré- et postnatal, une microcéphalie, une déficience intellectuelle légère à sévère, une perte auditive neurosensorielle avec anomalies cochléaires et une dysmorphie faciale (à savoir, visage petit et allongé, rétrécissement bifrontal, épicanthus, nez court, petites narines, oreilles dysplasiques et cou court). Parmi les autres caractéristiques variables, on peut citer des malformations des membres, des anomalies cardiaques, une pigmentation anormale de la peau et des infections récurrentes."},"de":{"name":"Warsaw-Breakage-Syndrom","synonyms":["WABS"],"definition":"Ein seltenes genetisch bedingtes Dysmorphie-Syndrom mit multiplen Anomalien, das durch prä- und postnatale Wachstumsbeschränkung, Mikrozephalie, leichte bis schwere Intelligenzminderung, Schallempfindungsschwerhörigkeit mit Cochlea-Anomalien und Gesichtsdysmorphien (mit kleinem und länglichem Gesicht, bifrontaler Verengung, Epikanthus, kurzer Nase, kleinen Nasenlöchern, dysplastischen Ohren und kurzem Hals) gekennzeichnet ist. Weitere variable Merkmale sind unter anderem Fehlbildungen der Gliedmaßen, Herzanomalien, abnorme Hautpigmentierung und wiederkehrende Infektionen."},"es":{"name":"Síndrome de rotura cromosómica de Varsovia","synonyms":["WABS"],"definition":"En un síndrome dismórfico/ de anomalías congénitas múltiples, de origen genético y poco frecuente, caracterizado por restricción del crecimiento pre- y postnatal, microcefalia, discapacidad intelectual de leve a grave, hipoacusia neurosensorial con anomalías cocleares y dismorfia facial (con cara pequeña y alargada, estrechamiento bifrontal, epicanto, nariz corta, narinas pequeñas, orejas displásicas y cuello corto). Otras características variables son las malformaciones de las extremidades, las anomalías cardíacas, las anomalías de la pigmentación cutánea y las infecciones recurrentes."},"it":{"name":"Sindrome da rotture cromosomiche di Varsavia","synonyms":["WABS"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo della crescita pre- e postnatale, microcefalia, disabilità intellettiva lieve-grave, sordità neurosensoriale con anomalie cocleari, e dismorfismi facciali (viso piccolo e allungato, restringimento bifrontale, epicanto, naso corto, narici piccole, orecchie displasiche e collo corto). I pazienti possono presentare anche malformazioni degli arti, cardiopatie, anomalie della pigmentazione della cute, e infezioni ricorrenti."},"nl":{"name":"Warschau-breuksyndroom","synonyms":["WABS"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door pre- en postnatale groeirestrictie, microcefalie, milde tot ernstige intellectuele achterstand, sensorineuraal gehoorverlies met cochleaire afwijkingen, en faciale dysmorfie (met klein en langwerpig gelaat, bifrontale vernauwing, epicanthus, korte neus, kleine neusgaten, dysplastische oren, en korte hals). Bijkomende variabele kenmerken zijn onder meer malformaties van ledematen, hartanomalieën, abnormale huidpigmentatie, en recidiverende infecties."},"pt":{"name":"Síndrome de quebras de Varsóvia","synonyms":["WABS"]},"pl":{"name":"Zespół Warszawa/Warsaw","synonyms":["WABS"]},"cs":{"name":"Varšavský syndrom chromozomální instability","synonyms":["WABS"]},"uk":{"name":"Варшавський синдром","synonyms":["WABS"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by pre- and postnatal growth restriction, microcephaly, mild to severe intellectual disability, sensorineural hearing loss with cochlear abnormalities, and facial dysmorphism (with small and elongated face, bifrontal narrowing, epicanthus, short nose, small nares, dysplastic ears, and short neck). Additional variable features include limb malformations, cardiac anomalies, abnormal skin pigmentation, and recurrent infections, among others."},"zh":{"name":"WARSAW破损综合症","synonyms":["WABS"]},"tr":{"name":"Varşova kırık sendromu","synonyms":["WABS"]}},"xrefs":[{"source":"OMIM","code":"613398","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"833375162"},{"source":"MONDO","code":"0013252","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150658","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13708","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":"DDX11","name":"DEAD/H-box helicase 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23033317[PMID]_20137776[PMID]","hgnc":"2736","ensembl":"ENSG00000013573","omim":"601150","loci":["12p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"20137776[PMID]_21490908[PMID]_23033317[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}