{"orpha":1911,"name":"Cocaine embryofetopathy","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Fetal cocaine syndrome"],"definition":"Cocaine embryofetopathy is a group of clinical signs observed in newborns exposed <i>in utero</i> to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1911/","orphanet_url":"https://www.orpha.net/en/disease/detail/1911","names":{"fr":{"name":"Embryofoetopathie à la cocaïne","synonyms":["Exposition anténatale à la cocaïne"],"definition":"Groupe de signes cliniques observés chez les nouveau-nés exposés <i>in utero</i> à la cocaïne, un stimulant du système nerveux central à courte durée d'action utilisé comme drogue récréative par inhalation de la poudre ou par injection intraveineuse. Chez la progéniture, la consommation de cocaïne pendant la grossesse est associée à un retard de croissance intra-utérin, à un faible poids de naissance, à des crises convulsives, à une détresse respiratoire (diminution de la densité des apnées et respiration périodique), à des difficultés à s'alimenter, à une irritabilité et à une labilité émotionnelle, à une diminution de la régulation des états comportementaux et de la régulation autonome, à un manque de vigilance et d'orientation et à des troubles cognitifs (troubles du traitement auditif, trouble visuo-spatial et léger retard de langage)."},"de":{"name":"Kokain-Embryofetopathie","synonyms":["Fetales Kokain-Syndrom","Kokain-Exposition, vorgeburtliche"],"definition":"Die Kokain-Embryofetopathie bezeichnet eine Gruppe klinischer Zeichen von Neugeborenen, die <I>in utero </I> mit Kokain exponiert waren. Kokain ist ein kurzwirkendes zentralnervöses Stimulans und wird als 'Partydroge' geschnupft oder gespritzt. Kokainkonsum während der Schwangerschaft wird mit intrauteriner Wachstumsrestriktion, niedrigem Geburtsgewicht, Krampfanfällen, Atemnot (verminderte Apnoe-Dichte und periodische Atmung), Schwierigkeiten bei der Nahrungsaufnahme, Reizbarkeit und Labilität, verminderter Verhaltens- und autonomer Regulation, verminderter Wachsamkeit und Orientierung sowie kognitiven Beeinträchtigungen (beeinträchtigte Verarbeitung auditiver Informationen, visuell-räumliche Verzögerung und subtile Sprachverzögerung) bei den Nachkommen in Verbindung gebracht."},"es":{"name":"Embriopatía por cocaína","synonyms":["Exposición fetal a la cocaína"],"definition":"Este término engloba un grupo de hallazgos clínicos observados en los recién nacidos expuestos <i>in utero</i> a cocaína, un estimulante del sistema nervioso central de acción rápida utilizado como droga recreativa mediante la inhalación del polvo o inyección intravenosa. El consumo de cocaína durante el embarazo se asocia con restricción del crecimiento intrauterino, bajo peso al nacer, convulsiones, dificultad respiratoria (disminución de densidad de apneas y de la respiración periódica), dificultades en la alimentación, irritabilidad y estado de labilidad, disminución de la regulación autónoma y conductual, disminución del estado de alerta, y orientación y deterioro cognitivo (deficiente procesamiento de la información auditiva, retraso viso-espacial y leve retraso del lenguaje) de la descendencia."},"it":{"name":"Embriofetopatia da cocaina","synonyms":["Esposizione prenatale alla cocaina"],"definition":"L'embrio/fetopatia da cocaina comprende un gruppo di segni clinici presenti nei neonati esposti in utero alla cocaina, uno stimolante del sistema nervoso centrale a rilascio immediato, utilizzato come stupefacente per uso voluttuario, attraverso l'inalazione o l'iniezione endovenosa. L'assunzione di cocaina durante la gravidanza si associa, nei neonati, a ritardo della crescita intrauterina, scarso peso alla nascita, crisi epilettiche, distress respiratorio (ridotta densità dell'apnea e respirazione periodica), difficoltà di alimentazione, irritabilità e instabilità emotiva, ridotta regolazione comportamentale e del sistema autonomo, diminuzione dell'attenzione e dell'orientamento e deficit cognitivo (alterazioni nell'elaborazione delle informazioni uditive, ritardo visuo-spaziale e lieve ritardo del linguaggio)."},"nl":{"name":"Cocaïne-embryofoetopathie","synonyms":["Foetaal cocaïnesyndroom"],"definition":"Cocaïne-embryofoetopathie is een groep klinische tekenen waargenomen bij pasgeborenen die <i>in utero</i> werden blootgesteld aan cocaïne, een kortwerkend pepmiddel van het centrale zenuwstelsel dat gebruikt wordt als recreatieve drug door inhalatie van het poeder of intraveneuze injectie. Het gebruik van cocaïne tijdens de zwangerschap is geassocieerd met intra-uteriene groeirestrictie, laag geboortegewicht, insulten, ademhalingsproblemen (verminderde apneudensiteit en periodieke ademhaling), voedingsproblemen, prikkelbaarheid en labiele gesteldheid, verminderde gedrags- en autonome regulatie, ondermaatse alertheid en oriëntatie, en cognitieve beperking (verstoorde verwerking van auditieve informatie, visueel-ruimtelijke vertraging en subtiele taalachterstand) bij de nakomelingen."},"pt":{"name":"Embriofetopatia por cocaína","synonyms":["Síndrome de cocaína fetal"]},"pl":{"name":"Embriofetopatia kokainowa","synonyms":["Płodowy zespół kokainowy"]},"cs":{"name":"Kokainová embryofetopatie","synonyms":["Fetální kokainový syndrom"]},"uk":{"name":"Кокаїнова ембріофетопатія","synonyms":["Кокаїновий синдром плода"],"definition":"Cocaine embryofetopathy is a group of clinical signs observed in newborns exposed <i>in utero</i> to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring."},"zh":{"name":"可卡因胚胎胎儿病","synonyms":["胎儿可卡因综合征"]},"tr":{"name":"Kokain embriyofetopatisi","synonyms":["fetal kokain 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":"1604796846"},{"source":"MONDO","code":"0016007","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432371","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1413","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:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100657","label":"Celosomia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011100","label":"Intestinal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Occasional (29-5%)","criteria":null}]}}