{"orpha":1916,"name":"Diethylstilbestrol syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["DES syndrome","Diethylstilbestrol embryofetopathy","Distilbene embryofetopathy","DES embryofetopathy"],"definition":"A malformation syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (DES) during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1916/","orphanet_url":"https://www.orpha.net/en/disease/detail/1916","names":{"fr":{"name":"Syndrome diéthylstilbestrol","synonyms":["Embryofoetopathie au distilbène","Exposition anténatale au diéthylstilbestrol","Syndrome DES"],"definition":"Le syndrome diéthylstilbestrol (DES) est un syndrome malformatif survenant chez les descendants (enfants et petits-enfants) de femmes exposées au DES au cours de leur grossesse. Il se caractérise par des malformations de l'appareil reproducteur, une diminution de la fertilité et un risque accru pour les jeunes femmes de développer un carcinome à cellules claires du vagin et du col de l'utérus. Les anomalies génitales rapportées incluent un utérus hypoplasique en forme de T et d'autres anomalies utéro-tubaires augmentant le risque de fausses couches chez les femmes, ainsi que des kystes de l'épididyme, un micropénis, une cryptorchidie ou une hypoplasie testiculaire chez les hommes. Le DES, un oestrogène synthétique non-stéroïdien a été largement prescrit entre 1940 et 1970 pour éviter les fausses couches."},"de":{"name":"Diethylstilbestrol-Syndrom","synonyms":["DES-Syndrom","Diethylstilbestrol (DES)-Embryopathie","Distilben-Embryopathie"]},"es":{"name":"Síndrome por dietilestilbestrol","synonyms":["Embriofetopatía por dietilestilbestrol (DES)","Embriofetopatía por distilben","Síndrome DES"],"definition":"Es un síndrome malformativo descrito en la descendencia (hijos y nietos) de mujeres expuestas a DES durante el embarazo, que está caracterizado por malformaciones del tracto reproductivo, disminución de la fertilidad y un incremento del riesgo de desarrollar carcinoma vaginal y de cuello de útero de células claras en mujeres jóvenes. Las malformaciones genitales descritas incluyen útero pequeño en forma de T y otras anomalías del útero y de las trompas que incrementan el riesgo de abortos espontáneos en mujeres, y la presencia de quistes epididimales, microfalo, criptorquidia o hipoplasia testicular en varones. El DES es un estrógeno sintético no esteroideo que fue prescrito ampliamente entre los años 1940-1970 para prevenir el aborto espontáneo."},"it":{"name":"Sindrome da dietilstilbestrolo","synonyms":["Embriofetopatia da DES","Embriofetopatia da dietilstilbestrolo","Embriofetopatia da distilbene","Sindrome da DES"],"definition":"La sindrome da dietilstilbestrolo (DES) è una malattia malformativa descritta nella discendenza (figli e nipoti) delle donne esposte al DES durante la gravidanza. È caratterizzata da malformazioni dell'apparato riproduttivo, diminuzione della fertilità e aumento del rischio di carcinoma a cellule chiare della vagina e della cervice nelle giovani donne. Le malformazioni dell'apparato riproduttivo descritte nella sindrome da DES comprendono l'utero ipoplasico a forma di T e altre anomalie dell'utero e delle tube, che aumentano il rischio di aborto nelle femmine; nei maschi si osservano cisti epididimali, micropene, criptorchidismo o ipoplasia testicolare. Il DES, un estrogeno sintetico non steroideo, veniva largamente prescritto tra il 1940 e il 1970 per prevenire l'aborto."},"nl":{"name":"Diëthylstilbestrolsyndroom","synonyms":["DES-embryofoetopathie","DES-syndroom","Distilbeen-embryofoetopathie","Diëthylstilbestrol-embryofoetopathie"],"definition":"Een malformatiesyndroom dat wordt gerapporteerd in nakomelingen (kinderen en kleinkinderen) van vrouwen die werden blootgesteld aan DES tijdens de zwangerschap, en dat wordt gekarakteriseerd door malformaties van voortplantingsorganen, verminderde vruchtbaarheid en verhoogd risico op de ontwikkeling van heldercellig carcinoom van vagina en baarmoederhals bij jonge vrouwen. Malformaties van voortplantingsorganen die werden gerapporteerd bij DES-syndroom zijn onder meer kleine, T-vormige baarmoeders en andere uterotubale anomalieën die het risico op een miskraam bij vrouwen verhogen, en epididymale cysten, micropenis, cryptorchisme of testiculaire hypoplasie bij mannen. DES, een synthetisch niet-steroïdaal oestrogeen werd volop voorgeschreven tussen 1940 en 1970 om miskramen te voorkomen."},"pt":{"name":"Embriofetopatia por dietilstilbestrol","synonyms":["Embriofetopatia por distilbeno"]},"pl":{"name":"Zespół dietylstilbestrolowy","synonyms":["Embriofetopatia dietylstilbestrolowa","Embriofetopatia DES","Zespół DES"]},"cs":{"name":"Diethylstilbestrolový syndrom","synonyms":["DES embryopatie","DES syndrom","Diethylstilbestrolová embryopatie","Distilbenová embryopatie"]},"uk":{"name":"Синдром діетилстильбестролу","synonyms":["Ембріофетопатія DES","Синдром дисемінованого склерозу","Ембріофетопатія діетилстильбестролу","Дистильбенева ембріофетопатія"],"definition":"A malformation syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (DES) during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage."},"zh":{"name":"己烯雌酚综合征","synonyms":["己烯雌酚胎儿胚胎病"]},"tr":{"name":"Dietilstilbestrol sendromu","synonyms":["DES sendromu","DES embriyofetopati","Distilben embriyofetopati","Dietilstilbestrol embriyofetopati"]}},"xrefs":[{"source":"ICD-10","code":"Q86.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB44.6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1134098724"},{"source":"MONDO","code":"0016012","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0853695","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1859","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10012780","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":180065,"name":"Non-syndromic uterovaginal malformation","classifications":[147,185,205,233]},{"orpha":399882,"name":"Rare female infertility due to an implantation defect","classifications":[201]},{"orpha":251529,"name":"Toxic or drug-related embryofetopathy","classifications":[147,204,216]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-01-04","source":"15906411[PMID]_19689815[PMID]_21991952[PMID]_22682699[PMID]_3717241[PMID]_20204493[PMID]_17390375[PMID]_3807995[PMID]_12918007[PMID]","terms":[{"hpo":"HP:0012243","label":"Abnormal reproductive system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000035","label":"Abnormal testis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000130","label":"Abnormality of the uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000868","label":"Decreased fertility in females","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030424","label":"Epididymal cyst","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000013","label":"Hypoplasia of the uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100602","label":"Preeclampsia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008715","label":"Testicular dysgenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100650","label":"Vaginal neoplasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002871","label":"Central apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Occasional (29-5%)","criteria":null}]}}