{"orpha":1918,"name":"Fetal minoxidil syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Minoxidil antenatal exposure"],"definition":"Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1918/","orphanet_url":"https://www.orpha.net/en/disease/detail/1918","names":{"fr":{"name":"Embryopathie au minoxidil","synonyms":["Exposition anténatale au minoxidil"],"definition":"Ensemble de symptômes qui peuvent être observés chez un foetus ou un nouveau-né dont la mère a été exposée au minoxidil pendant la grossesse. Le minoxidil est utilisé dans le traitement de l'hypertension rénale maligne et comme solution topique pour induire la croissance des cheveux. Des cas d'hypertrichose diminuant progressivement au cours des 6 premiers mois de vie ont été rapportés. Parmi d'autres caractéristiques décrites figurent des malformations cardiaques (transposition congénitale des grands vaisseaux et sténose valvulaire pulmonaire), des troubles du neurodéveloppement (syndrome de régression caudale), des malformations gastro-intestinales, rénales et des malformations des membres. Aucune étude concluante n'est toutefois disponible à ce jour."},"de":{"name":"Minoxidil-Embryopathie","synonyms":["Fetales Minoxidil-Syndrom","Minoxidil-Exposition, vorgeburtliche"],"definition":"Das fetale Minoxidil-Syndrom ist durch eine Gruppe von Symptomen gekennzeichnet, die bei einem Fötus oder Neugeborenen beobachtet werden können, wenn die Mutter während der Schwangerschaft Minoxidil eingenommen hat. Minoxidil wird zur Behandlung von maligner renaler Hypertonie und als topische Lösung zur Induktion des Haarwachstums auf der Kopfhaut verwendet. Es wurde über Hypertrichose berichtet, die in den ersten sechs Monaten nach der Geburt allmählich abklingt. Weitere berichtete Merkmale sind Herzfehler (angeborene Transposition der großen Gefäße und Pulmonalklappenstenose), neurologische Entwicklungsstörungen (kaudale Regressionssequenz), gastrointestinale, renale und Fehlbildungen der Gliedmaßen. Es liegen jedoch keine abschließenden Studien vor."},"es":{"name":"Síndrome fetal por minoxidil","synonyms":["Exposición prenatal a minoxidil"],"definition":"Se caracteriza por la presencia de un grupo de síntomas que pueden ser observados tanto en el feto como en el recién nacido cuando la madre ha consumido minoxidilo durante el embarazo. El minoxidilo se utiliza para el tratamiento de la hipertensión renal maligna y como solución tópica para inducir el crecimiento del cabello. Se ha descrito hipertricosis que disminuye gradualmente durante los primeros seis meses de vida. Otros hallazgos adicionales observados incluyen malformaciones cardíacas (transposición de grandes vasos y estenosis de la válvula pulmonar), y trastornos del neurodesarrollo (secuencia de regresión caudal), malformaciones gastrointestinales, renales y de las extremidades. Sin embargo, a día de hoy, no se cuenta con estudios concluyentes."},"it":{"name":"Sindrome fetale da minoxidil","synonyms":["Esposizione prenatale al minoxidil"],"definition":"La fetopatia da minoxidil è caratterizzata da una serie di segni clinici che si osservano nei feti o nei neonati dopo assunzione di minoxidil da parte della madre durante la gravidanza. Il minoxidil viene utilizzato per il trattamento dell'ipertensione renale maligna e sotto forma di soluzione topica per favorire la crescita dei capelli. Sono stati osservati pazienti con ipertricosi che si riduce gradualmente nei primi sei mesi di vita. Altri segni clinici sono le cardiopatie (trasposizione congenita dei grandi vasi e stenosi della valvola polmonare), le anomalie dello sviluppo neurologico (sequenza della regressione caudale) (si vedano questi termini) e le malformazioni gastrointestinali, renali e degli arti. Tuttavia non sono al momento disponibili studi conclusivi."},"nl":{"name":"Foetaal minoxidilsyndroom","synonyms":["Prenatale blootstelling aan inoxidil"],"definition":"Foetaal minoxidilsyndroom wordt gekarakteriseerd door een groep symptomen die mogelijk kunnen waargenomen worden in een foetus of pasgeborene wanneer de moeder minoxidil innam tijdens de zwangerschap. Minoxidil wordt gebruikt bij de behandeling van maligne renale hypertensie en als een topische oplossing om haargroei op de hoofdhuid te induceren. Hypertrichose die geleidelijk afneemt tijdens de eerste zes postnatale maanden werd reeds gerapporteerd. Bijkomende kenmerken die werden gerapporteerd, zijn onder meer malformaties van het hart (congenitale transpositie van grote bloedvaten pulmonalisklepstenose), de neurologische ontwikkeling (caudale regressiesyndroom) (zie deze termen), het gastro-intestinale stelsel, de nieren, en de ledematen. Sluitende studies zijn echter niet beschikbaar."},"pt":{"name":"Síndrome de minoxidil fetal","synonyms":["Exposição prénatal ao minoxidil"]},"pl":{"name":"Płodowy zespół minoksydylowy","synonyms":["Minoxidil antenatal infection"]},"cs":{"name":"Fetální minoxidilový syndrom","synonyms":["Minoxidil antenatal exposure"]},"uk":{"name":"Фетальний міноксіділовий синдром","synonyms":["Антенатальна експозиція міноксидилу"],"definition":"Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence) (see these terms), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available."},"zh":{"name":"胎儿米诺地尔综合征","synonyms":["米诺地尔所致产前感染"]},"tr":{"name":"Fetal minoksidil sendromu","synonyms":["Minoksidil antenatal enfeksiyon"]}},"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":"4930572"},{"source":"MONDO","code":"0016014","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432373","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2308","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]}],"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:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null}]}}