{"orpha":1910,"name":"Fetal iodine syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1910/","orphanet_url":"https://www.orpha.net/en/disease/detail/1910","names":{"fr":{"name":"Hypothyroïdie congénitale par insuffisance/excès d'apport en iode","definition":"Désigne les symptômes et les signes qui peuvent être observés chez un foetus ou un nouveau-né lorsque la mère a été exposée pendant la grossesse à des quantités inappropriées (insuffisantes ou excessives) d'iode. La carence en iode est associée au goitre et à l'hypothyroïdie. Une carence sévère en iode chez la femme enceinte est associée à une hypothyroïdie congénitale qui se manifeste par une augmentation de la morbidité et de la mortalité néonatale et par une déficience intellectuelle sévère, une hyperactivité, des troubles de l'attention et une diminution substantielle et irréversible du quotient intellectuel. L'ingestion excessive d'iode au cours du troisième trimestre de la grossesse peut entraîner une hypothyroïdie et un goitre foetal en raison d'une inhibition prolongée de la synthèse des hormones thyroïdiennes et d'une augmentation de la thyrotropine (TSH)."},"de":{"name":"Jodmangelsyndrom, fetales","synonyms":["Kongenitale Hypothyreose durch Jodmangel/Jodüberschuss"],"definition":"Das fetale Jodmangelsyndrom bezeichnet Symptome und Anzeichen, die bei einem Fötus oder Neugeborenen beobachtet werden können, wenn die Mutter während der Schwangerschaft einer unzureichenden (oder übermäßigen) Jodzufuhr ausgesetzt war. Jodmangel steht in Zusammenhang mit Kropfbildung und Schilddrüsenunterfunktion. Bei schwerem Jodmangel während der Schwangerschaft kommt es zu einer angeborenen Schilddrüsenunterfunktion, die sich durch eine erhöhte Morbidität und Mortalität bei Neugeborenen sowie schwere kognitive Beeinträchtigungen, Hyperaktivität, Aufmerksamkeitsstörungen und eine irreversible erhebliche Abnahme des IQ äußert. Eine übermäßige Jodzufuhr im dritten Schwangerschaftstrimester kann aufgrund einer anhaltenden Hemmung der Schilddrüsenhormonsynthese und eines Anstiegs des Thyreoidea-stimulierenden Hormons (TSH) zu einer Schilddrüsenunterfunktion und einem Kropf beim Fötus führen."},"es":{"name":"Síndrome por exposición fetal a la iodina","definition":"Este síndrome hace referencia a los síntomas y signos que pueden observarse en un feto o un recién nacido cuando la madre ha estado expuesta a cantidades inapropiadas (insuficientes o excesivas) de yodo durante el embarazo. La deficiencia de yodo se asocia con bocio e hipotiroidismo. En mujeres embarazadas, la ingesta excesiva de yodo durante el tercer trimestre del embarazo puede conllevar hipotiroidismo y bocio fetal debido a una inhibición prolongada de la síntesis de hormonas tiroideas y a un incremento de la tirotropina (TSH) que puede provocar hipotiroidismo congénito en el recién nacido, que se manifiesta por un aumento de la morbimortalidad neonatal y una disfunción mental grave, hiperactividad, trastornos de atención y una disminución significativa del coeficiente intelectual de carácter irreversible."},"it":{"name":"Fetopatia da iodio","definition":"La fetopatia da iodio definisce i sintomi e i segni clinici che si osservano nei feti o nei neonati le cui madri sono state esposte, durante la gravidanza, a quantità inadeguate (insufficienti o eccessive) di iodio. Il deficit di iodio si associa a gozzo e ipotiroidismo. Un deficit grave di iodio durante la gravidanza si associa all'ipotiroidismo congenito, che si manifesta con un aumento della morbilità e della mortalità neonatale e grave deficit mentale, iperattività, disturbi dell'attenzione e diminuzione significativa e irreversibile del QI. Un'eccessiva assunzione di iodio nel terzo trimestre di gravidanza causa nel feto ipotiroidismo e gozzo, secondari alla prolungata inibizione della sintesi dell'ormone tiroideo e all'aumento della tireotropina (TSH)."},"nl":{"name":"Foetaal jodiumsyndroom","definition":"Foetaal jodiumsyndroom verwijst naar symptomen en tekenen die kunnen waargenomen worden bij een foetus of pasgeborene wanneer de moeder tijdens de zwangerschap werd blootgesteld aan ongepaste (onvoldoende of excessief) hoeveelheden jodium. Jodiumdeficiëntie is geassocieerd met struma en hypothyreoïdie. Wanneer ernstige jodiumdeficiëntie voorkomt tijdens de zwangerschap, is het geassocieerd met congenitale hypothyreoïdie die zich manifesteert met verhoogde neonatale morbiditeit en mortaliteit, alsook ernstige mentale disfunctie, hyperactiviteit, aandachtsstoornisen en een aanzienlijke en onomkeerbare afname van het IQ. Overmatige inname van jodium tijdens het derde trimester van de zwangerschap kan leiden tot hypothyreoïdie en foetaal struma als gevolg van een langdurige inhibitie van de synthese van schildklierhormoon en een toename van thyrotropine (TSH)."},"pt":{"name":"Síndrome iodo fetal"},"pl":{"name":"Płodowy zespół jodowy"},"cs":{"name":"Fetální jodový syndrom"},"uk":{"name":"Фетальний йодний синдром","definition":"Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH)."},"zh":{"name":"胎儿碘综合征"},"tr":{"name":"Fetal iyot sendromu"}},"xrefs":[{"source":"OMIM","code":"228355","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"P72.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A00.03","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1689139055"},{"source":"MONDO","code":"0009224","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273860","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2304","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":138059,"name":"Teratogenic Pierre Robin syndrome","classifications":[147,200,209]},{"orpha":251529,"name":"Toxic or drug-related embryofetopathy","classifications":[147,204,216]},{"orpha":238696,"name":"Transient congenital hypothyroidism due to maternal factor","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001264","label":"Spastic diplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}