{"orpha":1920,"name":"Toluene embryopathy","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1920/","orphanet_url":"https://www.orpha.net/en/disease/detail/1920","names":{"fr":{"name":"Embryopathie au toluène","synonyms":["Exposition anténatale au toluène"],"definition":"L'embryopathie au toluène est un syndrome neuro-développemental tératogène causé par l'exposition prénatale au toluène. La maladie se caractérise par une prématurité, un faible poids à la naissance, une dysmorphie faciale (fentes palpébrales étroites, yeux enfoncés, oreilles basses, hypoplasie médio-faciale, arête nasale plate, lèvre supérieure mince, micrognathie, bouts des doigts en spatule et ongles hypoplasiques), des dysfonctionnements du système nerveux central (déficience intellectuelle, microcéphalie, trouble du langage, hyperactivité, troubles visuels) ainsi qu'un retard de croissance postnatale. L'exposition prénatale au toluène est la conséquence d'une exposition professionnelle accidentelle ou d'une inhalation abusive de solvants au cours de la grossesse. Les manifestations de l'embryopathie au toluène co-existent souvent avec ceux observés dans le syndrome d'alcoolisation foetale."},"de":{"name":"Toluol-Embryopathie","synonyms":["Toluol-Exposition, vorgeburtliche"]},"es":{"name":"Embriopatía por tolueno","definition":"Es un síndrome teratogénico del neurodesarrollo debido a una exposición al tolueno durante el desarrollo intrauterino. La enfermedad se caracteriza por prematuridad, bajo peso al nacer, rasgos dismórficos (fisuras palpebrales cortas, ojos hundidos, orejas de implantación baja, hipoplasia mediofacial, puente nasal plano, labio superior delgado, micrognatia, yemas de los dedos espatuladas y uñas pequeñas), alteraciones del sistema nervioso central (discapacidad intelectual, microcefalia, trastorno del lenguaje, hiperactividad, disfunción visual) y retraso en el crecimiento posnatal. La exposición prenatal al tolueno ocurre como resultado de la exposición ocupacional incidental o por abuso de sustancias disolventes durante el embarazo. Con frecuencia, los hallazgos de la embriopatía por tolueno se solapan con los observados en el síndrome de alcoholismo fetal."},"it":{"name":"Embriopatia da toluene","definition":"L'embriopatia da toluene è una sindrome teratologica dello sviluppo neurologico causata dall'esposizione prenatale al toluene. La malattia è caratterizzata da prematurità, scarso peso alla nascita, dismorfismi (rime palpebrali corte, occhi infossati, orecchie a basso impianto, ipoplasia medio-facciale, appiattimento della radice del naso, labbro superiore sottile, micrognatia, estremità delle dita a spatola e unghie delle mani piccole), disfunzioni del sistema nervoso centrale (disabilità intellettiva, microcefalia, compromissione del linguaggio, iperattività, disfunzioni visive) e ritardo della crescita postnatale. La malattia si verifica per esposizione professionale accidentale al toluene oppure in caso di abuso del solvente durante la gravidanza. Spesso i segni clinici dell'embriopatia da toluene sono sovrapponibili a quelli della sindrome feto-alcolica (si veda questo termine)."},"nl":{"name":"Tolueen-embryopathie","definition":"Een teratologisch syndroom van de neurologische ontwikkeling als gevolg van prenatale blootstelling aan tolueen. De ziekte wordt gekarakteriseerd door prematuriteit, laag geboortegewicht, dysmorfe kenmerken (korte ooglidspleten, diepliggende ogen, laagstaande oren, hypoplasie van middengezicht, platte neusbrug, dunne bovenlip, micrognathie, spatelvormige vingertoppen en kleine vingernagels), disfuncties van het centrale zenuwstelsel (intellectuele achterstand, microcefalie, taalstoornis, hyperactiviteit, visuele disfunctie) en postnatale groeiachterstand. Prenatale blootstelling aan tolueen komt voor als gevolg van incidentele beroepsmatige blootstelling of misbruik van het middel tijdens de zwangerschap. De kenmerken van tolueen-embryopathie overlappen vaak met die van foetaal alcoholsyndroom."},"pt":{"name":"Embriofetopatia por tolueno","synonyms":["Síndrome tolueno fetal"]},"pl":{"name":"Embriopatia toluenowa","synonyms":["Prenatalne zatrucie toluenem"]},"cs":{"name":"Toluenová embryopatie"},"uk":{"name":"Толуенова ембріопатія","definition":"A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome."},"zh":{"name":"甲苯胚胎病"},"tr":{"name":"Toluen embriyopatisi"}},"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":"1446076607"},{"source":"MONDO","code":"0016016","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931737","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:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100542","label":"Abnormal localization of kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null}]}}