{"orpha":3312,"name":"Thalidomide embryopathy","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Fetal thalidomide syndrome"],"definition":"Thalidomide embryopathy is a group of anomalies present in infants as a result of <i>in utero</i> exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma. Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3312/","orphanet_url":"https://www.orpha.net/en/disease/detail/3312","names":{"fr":{"name":"Embryopathie à la thalidomide","synonyms":["Foetopathie à la thalidomide"],"definition":"Groupe d'anomalies présentes chez les nourrissons à la suite d'une exposition <i>in utero</i> (entre 20 et 36&nbsp;jours après la fécondation) à la thalidomide, un sédatif utilisé dans le traitement de nombreuses affections, notamment des nausées matinales, de la lèpre et du myélome multiple. L'embryopathie à la thalidomide se caractérise par une phocomélie, une amélie, des anomalies de la partie antérieure des membres et de la main (absence d'humérus et/ou d'avant-bras, de fémur et/ou de la partie inférieure de la jambe, anomalies du pouce). Les autres anomalies comprennent des hémangiomes faciaux et des anomalies des oreilles (anotie, microtie), des yeux (microphtalmie, anophtalmie, colobome, strabisme), des organes internes (reins, coeur et tractus gastro-intestinal), des organes génitaux et du coeur. La létalité infantile associée à l'embryopathie à la thalidomide est estimée à 40&nbsp;%. La thalidomide est contre-indiquée pendant la grossesse, aussi, il est recommandé d'éviter toute grossesse chez les femmes sous traitement."},"de":{"name":"Thalidomid-Embryopathie","definition":"Als Thalidomid-Embryopathie wird eine Gruppe von Anomalien bezeichnet, die bei Kindern auftreten, die <i>in utero</i> (zwischen 20 und 36 Tagen nach der Befruchtung) mit Thalidomid exponiert waren. Die Substanz ist ein Schlafmittel, das bei der Behandlung verschiedener Krankheiten, darunter morgendliche Übelkeit, Lepra und multiple Myelome, eingesetzt wird. Die Thalidomin-Embryopathie ist gekennzeichnet durch Phokomelie, Amelie, Anomalien der Vordergliedmaßen und der Handplatte (Fehlen von Oberarm und/oder Unterarm, Oberschenkel und/oder Unterschenkel, Daumenanomalien). Zu den weiteren Anomalien gehören Hämangiome im Gesicht und Schäden an Ohren (Anotie, Mikrotie), Augen (Mikrophthalmie, Anophthalmus, Kolobom, Strabismus), inneren Organen (Niere, Herz und Magen-Darm-Trakt), Genitalien und Herz. Die Säuglingssterblichkeit im Zusammenhang mit der Thalidomid-Embryopathie wird auf bis zu 40 % geschätzt. Thalidomid ist in der Schwangerschaft kontraindiziert, und es wird empfohlen, bei Frauen, die mit Thalidomid behandelt werden, eine Schwangerschaft zu verhindern."},"es":{"name":"Embriopatía por talidomida","definition":"Es un grupo de anomalías que se presentan en lactantes como consecuencia de la exposición <i>in utero</i> (entre 20 y 36 días después de la fecundación) a la talidomida, un sedante utilizado en el tratamiento de una gran variedad de afecciones, tales como las náuseas matutinas durante el embarazo, la lepra y el mieloma múltiple. La embriopatía por talidomida se caracteriza por focomelia, amelia y anomalías de la parte anterior de las extremidades y de la placa de la mano (ausencia de húmero y/o antebrazo, fémur y/o parte inferior de la pierna, anomalías del pulgar). Otras anomalías incluyen hemangiomas faciales y anomalías en pabellones auriculares (anotia, microtia), ojos (microftalmia, anoftalmos, coloboma, estrabismo), órganos internos (riñón y tracto gastrointestinal), genitales y cardíacos. Se estima que la mortalidad infantil asociada con la embriopatía por talidomida puede alcanzar el 40% de los casos. La talidomida está contraindicada durante el embarazo y se recomienda prevenirlo durante el tratamiento con este fármaco."},"it":{"name":"Embriopatia da talidomide","definition":"L'embriopatia da talidomide comprende un gruppo di difetti che si manifestano nei neonati a seguito dell'esposizione in utero (da 20 a 36 giorni dopo la fecondazione) alla talidomide, un sedativo utilizzato per il trattamento di diverse malattie, come le nausee mattutine, la lebbra e il mieloma multiplo (si vedano questi termini). L'embriopatia da talidomide è caratterizzata da focomelia, amelia, anomalie della porzione anteriore degli arti e delle mani (assenza dell'omero e/o della porzione anteriore delle braccia, del femore e/o della porzione inferiore delle gambe, anomalie dei pollici). Altre anomalie comprendono gli emangiomi facciali e le malformazioni delle orecchie (anotia, microtia), degli occhi (microftalmia, anoftalmo, coloboma, strabismo), degli organi interni (reni, cuore e tratto gastrointestinale), dei genitali. La mortalità neonatale associata all'embriopatia da talidomide è del 40%. La talidomide è controindicata in gravidanza; si raccomanda di evitare le gravidanze nelle donne che assumono il farmaco."},"nl":{"name":"Thalidomide-embryopathie","synonyms":["Foetaal thalidomidesyndroom"],"definition":"Thalidomide-embryopathie is een groep van anomalieën die zich presenteren bij zuigelingen als gevolg van blootstelling <i>in utero</i> (tussen 20-36 dagen na bevruchting) aan thalidomide, een kalmeringsmiddel dat gebruikt wordt bij de behandeling van verscheidene condities, waaronder ochtendmisselijkheid, lepra en meervoudig myeloom (zie deze termen). Thalidomide-embryopathie wordt gekarakteriseerd door focomelie, amelie, en anomalieën van de armen en de handplaat (afwezigheid van opperarmbeen en/of onderarm, dijbeen en/of onderbeen, duimanomalieën). Overige anomalieën zijn onder meer faciale hemangiomen, en beschadigingen aan oren (anotie, microtie), ogen (microftalmie, anoftalmie, coloboom, strabisme), inwendige organen (nier, hart, maag-darmstelsel) en genitaliën. De mortaliteit geassocieerd met thalidomide-embryopathie bij zuigelingen wordt geschat op maar liefst 40%. Thalidomide wordt afgeraden bij zwangerschap en preventie van zwangerschap wordt aangeraden voor vrouwen die in behandeling zijn."},"pt":{"name":"Embriopatia por talidomida"},"pl":{"name":"Embriopatia spowodowana talomidem","synonyms":["Płodowy zespół talomidowy"]},"cs":{"name":"Thalidomidová embryopatie","synonyms":["Fetální thalidomidový syndrom"]},"uk":{"name":"Талідомідна ембріопатія","synonyms":["Талідомідний синдром плода"],"definition":"Thalidomide embryopathy is a group of anomalies presented in infants as a result of <i>in utero</i> exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment."},"zh":{"name":"反应停胎儿病","synonyms":["胎儿反应停综合征"]},"tr":{"name":"Talidomid embriyopatisi","synonyms":["fetal talidomid sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q86.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"299085643"},{"source":"MONDO","code":"0018034","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432365","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2313","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10071249","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]},{"orpha":251529,"name":"Toxic or drug-related embryofetopathy","classifications":[147,204,216]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.77,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006495","label":"Aplasia/Hypoplasia of the ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005613","label":"Aplasia/hypoplasia of the femur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006507","label":"Aplasia/hypoplasia of the humerus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004059","label":"Radial club hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009813","label":"Upper limb phocomelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009892","label":"Anotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002257","label":"Chronic rhinitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Occasional (29-5%)","criteria":null}]}}