{"orpha":1912,"name":"Fetal hydantoin syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Fetal dihydantoin syndrome","Phenytoin embryofetopathy"],"definition":"A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1912/","orphanet_url":"https://www.orpha.net/en/disease/detail/1912","names":{"fr":{"name":"Embryofoetopathie à la phénylhydantoïne","synonyms":["Embryofoetopathie à la diphénylhydantoïne","Exposition anténatale à la diphénylhydantoïne"],"definition":"L'embryofoetopathie à la phénylhydantoïne est une embryofoetopathie médicamenteuse pouvant survenir lorsque l'embryon/foetus est exposé à la phénylhydantoïne, un agent anticonvulsif. Elle se caractérise par des anomalies craniofaciales caractéristiques (hypertélorisme et épicanthus, nez court et arête nasale profonde, oreilles dysplasiques et basses, cou court), ainsi que par une hypoplasie des phalanges distales et le sous-développement des ongles des doigts et des orteils, un retard de croissance pré- et postnatale et une atteinte neurologique (risque 2 à 3 fois supérieur à celui de la population générale) incluant des déficits cognitifs et un retard du développement moteur. D'autres signes ont aussi été rapportés plus rarement, dont une microcéphalie, des troubles oculaires, des fentes buccales, des hernies ombilicale et inguinale, un hypospadias et des anomalies cardiaques."},"de":{"name":"Dihydantoin-Embryopathie","synonyms":["Hydantoin-Embryopathie","Phenytoin-Embryopathie"]},"es":{"name":"Síndrome fetal por hidantoína","synonyms":["Embriofetopatía por fenitoina","Síndrome fetal por dihidantoína"],"definition":"Es una embriofetopatía asociada a fármacos que puede presentarse cuando un embrión/feto es expuesto al fármaco anticonvulsivo fenitoína. El síndrome está caracterizado por anomalías craneofaciales características (hipertelorismo y pliegues epicánticos, nariz corta y puente nasal deprimido, orejas malformadas y de baja implantación, cuello corto), así como falanges distales hipoplásicas e insuficiente desarrollo de las uñas de manos y pies, retraso en el crecimiento pre- y postnatal y deterioro neurológico (riesgo 2-3 veces mayor que el de la población general), incluyendo también déficits cognitivos y retraso en el desarrollo motor. También se han descrito, con menor frecuencia, microcefalia, defectos oculares, hendiduras orales, hernias umbilicales e inguinales, hipospadias y anomalías cardíacas."},"it":{"name":"Sindrome fetale da idantoina","synonyms":["Embriofetopatia da fentoina","Sindrome fetale da diidantoina"],"definition":"La sindrome fetale da idantoina è un'embrio/fetopatia correlata ad un farmaco; più specificamente è causata dall'esposizione dell'embrione/feto alla fentoina, un farmaco anticonvulsivante; è caratterizzata da dismorfismi craniofacciali caratteristici (orecchie basse e malformate, collo corto, naso corto e radice del naso piatta, ipertelorismo ed epicanto), ipoplasia delle falangi distali, iposviluppo delle unghie delle dita di mani e piedi, ritardo della crescita prenatale e postnatale e deficit neurologici (rischio 2-3 volte superiore rispetto a quello della popolazione generale), con deficit cognitivo e ritardo dello sviluppo motorio. Sintomi meno comuni sono la microcefalia, i difetti oculari, le schisi orali, l'ernia ombelicale e inguinale, l'ipospadia e i difetti cardiaci."},"nl":{"name":"Foetaal hydantoïnesyndroom","synonyms":["Fenytoïne embryofoetopathie","Foetaal dihydantoïnesyndroom"],"definition":"Een medicijn-gerelateerde embryofoetopathie die kan voorkomen wanneer een embryo/foetus wordt blootgesteld aan het anticonvulsivum fenytoïne, en die gekarakteriseerd wordt door typische craniofaciale anomalieën (hypertelorisme en epicanthusplooien, korte neus en diepe neusbrug, misvormde en laagstaande oren, korte nek), alsook hypoplastische distale falangen en onderontwikkelde vinger- en teennagels, pre- en postnatale groeiretardatie, en neurologische complicaties (met een 2-3 maal hoger risico dan de algemene populatie) waaronder cognitieve beperkingen en motorische ontwikkelingsachterstand. Minder vaak werden ook reeds microcefalie, oogdefecten, schisis, hernia inguinalis (liesbreuk) en umbilicalis (navelbreuk), hypospadieën en hartanomalieën gerapporteerd."},"pt":{"name":"Síndrome de hidantoína fetal","synonyms":["Embriofetopatia por fenitoína"]},"pl":{"name":"Płodowy zespół hydantoinowy","synonyms":["Embriofetopatia hydantoinowa"]},"cs":{"name":"Fetální hydantoinový syndrom","synonyms":["Fenytoinová embryopatie"]},"uk":{"name":"Фетальний гідантоїновий синдром","synonyms":["Фетальний дигідантоїновий синдром","Фенітоінова ембріофетопатія"],"definition":"A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported."},"zh":{"name":"胎儿乙内酰脲综合征","synonyms":["胎儿双乙内酰脲综合征"]},"tr":{"name":"Fetal hidantoin sendromu","synonyms":["Fenitoin embriyofetopati","fetal dihidantoin sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q86.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA07.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1894344911"},{"source":"MONDO","code":"0016008","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537922","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265372","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6435","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10016508","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":370068,"name":"Fetal anticonvulsant syndrome","classifications":[147,204,216]},{"orpha":138059,"name":"Teratogenic Pierre Robin syndrome","classifications":[147,200,209]}],"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:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000235","label":"Abnormality of the fontanelles or cranial sutures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null}]}}