{"orpha":499009,"name":"Congenital syphilis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MTCT of syphilis","Mother-to-child transmission of syphilis"],"definition":"A rare teratologic disease caused by vertical transmission of the spirochete <i>Treponema pallidum</i> from an infected mother to the fetus, characterized by early congenital syphilis during the first two years of life (maculopapular rash progressing to desquamation, hepatosplenomegaly, osteochondritis, snuffles, and iritis), followed by late congenital syphilis with the classic Hutchinson's triad of Hutchinson's teeth, interstitial keratitis, and eighth nerve deafness. Additional signs may include saddle nose, saber shins, seizures, and mental retardation. Congenital syphilis can also result in stillbirth, neonatal death, and nonimmune hydrops.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-499009/","orphanet_url":"https://www.orpha.net/en/disease/detail/499009","names":{"fr":{"name":"Syphilis congénitale","definition":"Maladie tératologique rare due à la transmission verticale du spirochète <i>Treponema pallidum</i> d'une mère infectée au foetus, caractérisée par une syphilis congénitale précoce au cours des deux premières années de vie (éruption maculopapulaire évoluant vers la desquamation, hépatosplénomégalie, ostéochondrite, rhinite et iritis), suivie d'une syphilis congénitale tardive avec la triade classique de Hutchinson : dents de Hutchinson, kératite interstitielle et une surdité due à l'atteinte du huitième nerf crânien. Les autres signes cliniques peuvent être le nez en forme de selle, les « tibias en lame de sabre », les crises convulsives et une déficience intellectuelle. La syphilis congénitale peut également entraîner la mortinatalité, la mort néonatale et l'anasarque non immune."},"de":{"name":"Syphilis, kongenitale","synonyms":["MTCT der Syphilis","Syphilis durch Mutter-Kind-Übertragung"],"definition":"Eine seltene teratologische Erkrankung, die durch die vertikale Übertragung des Spirochäten <i>Treponema pallidum</i> von der infizierten Mutter auf den Fötus verursacht wird und durch eine frühe kongenitale Syphilis in den ersten zwei Lebensjahren gekennzeichnet ist (makulopapulöser Ausschlag, der in eine Schuppung übergeht, Hepatosplenomegalie, Osteochondritis, Schnupfen und Iritis), gefolgt von der späten kongenitalen Syphilis mit der klassischen Hutchinson-Trias aus Hutchinson-Zähnen, interstitieller Keratitis und Taubheit des achten Nervs. Weitere Anzeichen können Sattelnase, Säbelschienbein, Krampfanfälle und Intelligenzminderung sein. Die kongenitale Syphilis kann auch zu Totgeburten, zum Tod des Neugeborenen und zu nicht immunem Hydrops führen."},"es":{"name":"Sífilis congénita","synonyms":["Transmisión materna de la sífilis"],"definition":"Es una enfermedad teratogénica poco frecuente causada por la transmisión vertical de la espiroqueta <i>Treponema pallidum</i> de la madre infectada al feto, caracterizada por sífilis congénita temprana durante los primeros dos años de vida (erupción maculopapular que progresa a descamación, hepatoesplenomegalia, osteocondritis, rinitis e iritis), seguida de sífilis congénita tardía con la clásica tríada de Hutchinson, con dientes de Hutchinson, queratitis intersticial y sordera del octavo par craneal. Otros signos adicionales pueden incluir nariz en silla de montar, espinillas en forma de sable, crisis epilépticas y discapacidad intelectual. La sífilis congénita también puede conducir a mortinatalidad, muerte neonatal e hidropesía no inmunitaria."},"it":{"name":"Sifilide congenita","definition":"Si tratta di una malattia teratologica rara, causata dalla trasmissione verticale dello spirocheta <i>Treponema pallidum</i> dalla madre affetta al feto, caratterizzata da sifilide congenita precoce nei primi due anni di vita (eruzione maculo-papulare che progredisce verso la desquamazione, epatosplenomegalia, osteocondrite, rinite e irite), seguita da sifilide congenita tardiva associata alla triade classica di Hutchinson (malformazione dentaria di Hutchinson, cheratite interstiziale e sordità da deficit dell'ottavo nervo). I pazienti possono presentare anche naso a sella, tibie ''a sciabola'', crisi epilettiche e ritardo mentale. La sifilide congenita può causare anche la morte perinatale e neonatale e l'idrope non-immune."},"nl":{"name":"Congenitale syfilis","synonyms":["MTCT van syfilis","Transmissie van moeder op kind van syfilis"],"definition":"Een zeldzame teratologische ziekte, veroorzaakt door verticale transmissie van de spirocheet <i>Treponema pallidum</i> van een geïnfecteerde moeder naar haar foetus, en gekarakteriseerd door vroege congenitale syfilis tijdens de eerste twee levensjaren (maculopapulaire huiduitslag met progressie naar afschilfering van huid, hepatosplenomegalie, osteochondritis, snotteren, en iritis), gevolgd door late congenitale syfilis met de klassieke triade van Hutchinson die bestaat uit Hutchinson-tanden, interstitiële keratitis, en doofheid door stoornis van achtste hersenzenuw. Mogelijke bijkomende tekenen zijn onder meer zadelneus, sabelbeen, insulten, en mentale retardatie. Congenitale syfilis kan ook leiden tot doodgeboorte, neonataal overlijden, en niet-immune hydrops."},"pt":{"name":"Sífilis congénita"},"pl":{"name":"Kiła wrodzona","synonyms":["MTCT of syphilis","Mother-to-child transmission of syphilis"]},"cs":{"name":"Vrozená syfilis","synonyms":["MTCT of syphilis","Mother-to-child transmission of syphilis"]},"uk":{"name":"Вроджений сифіліс","synonyms":["Передача сифілісу від матері до дитини","MTCT сифілісу"],"definition":"A rare teratologic disease caused by vertical transmission of the spirochete <i>Treponema pallidum</i> from an infected mother to the fetus, characterized by early congenital syphilis during the first two years of life (maculopapular rash progressing to desquamation, hepatosplenomegaly, osteochondritis, snuffles, and iritis), followed by late congenital syphilis with the classic Hutchinson's triad of Hutchinson's teeth, interstitial keratitis, and eighth nerve deafness. Additional signs may include saddle nose, saber shins, seizures, and mental retardation. Congenital syphilis can also result in stillbirth, neonatal death, and nonimmune hydrops."},"zh":{"name":"先天性梅毒","synonyms":["母婴传播性梅毒"],"definition":"一种罕见的畸形疾病，由感染的母亲将苍白密螺旋体螺旋体垂直传播给胎儿引起的，其特点是在出生后的头两年内出现早期先天性梅毒（斑丘疹发展为脱屑、肝脾肿大、骨膜炎、鼻炎和虹膜炎），其次是先天性梅毒晚期，有典型的Hutchinson三联症，即Hutchinson牙、间质性角膜炎和听神经性耳聋。其他症状还可能包括鞍鼻、军刀状胫骨、癫痫、智力低下等。先天性梅毒还可导致死胎、新生儿死亡和非免疫性水肿。"},"tr":{"name":"Doğumsal sifiliz","synonyms":["Sifilizin MTCT'si","Sifilizin anneden çocuğa bulaşması"]}},"xrefs":[{"source":"ICD-10","code":"A50.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"A50.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"A50.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"A50.3","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"A50.4","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"A50.5","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"A50.6","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"1A60","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"587996426"},{"source":"MONDO","code":"0005714","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D013590","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0039131","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010641","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":232035,"name":"Infectious embryofetopathy","classifications":[147,203,216]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"Europe","status":"Validated","source":"European Centre for Disease prevention and Control 2013-2017[OTHER]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":15.7,"area":"United States","status":"Validated","source":"CDC Centers for disease Control and prevention 2016[OTHER]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":15.7,"area":"United States","status":"Validated","source":"CDC Centers for disease Control and prevention 2016[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"Europe","status":"Validated","source":"European Centre for Disease prevention and Control 2013-2017[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"Czech Republic","status":"Validated","source":"European Centre for Disease prevention and Control 2013-2017[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.04,"area":"Denmark","status":"Validated","source":"European Centre for Disease prevention and Control 2013-2017[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Greece","status":"Validated","source":"European Centre for Disease prevention and Control 2013-2015[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Hungary","status":"Validated","source":"European Centre for Disease prevention and Control 2013-2017[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Italy","status":"Validated","source":"European Centre for Disease prevention and Control 2013-2015[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.6,"area":"Lithuania","status":"Validated","source":"European Centre for Disease prevention and Control 2013-2017[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"Poland","status":"Validated","source":"European Centre for Disease prevention and Control 2013-2017[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.4,"area":"Portugal","status":"Validated","source":"European Centre for Disease prevention and Control 2013-2017[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Romania","status":"Validated","source":"European Centre for Disease prevention and Control 2013-2017[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Sweden","status":"Validated","source":"European Centre for Disease prevention and Control 2013-2017[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Germany","status":"Validated","source":"European Centre for Disease prevention and Control 2013-2017[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.8,"area":"Spain","status":"Validated","source":"European Centre for Disease prevention and Control 2013-2017[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":26.6,"area":"Bulgaria","status":"Validated","source":"European Centre for Disease prevention and Control 2013-2017[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-10-02","source":"37628309[PMID]_29627075[PMID]_30725772[PMID]","terms":[{"hpo":"HP:0001978","label":"Extramedullary hematopoiesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006267","label":"Large placenta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040186","label":"Maculopapular exanthema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040188","label":"Osteochondrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040165","label":"Periostitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000967","label":"Petechiae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012229","label":"CSF pleocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012424","label":"Chorioretinitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0430028","label":"Hyperplasia of the maxilla","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011092","label":"Mulberry molar","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012819","label":"Myocarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012413","label":"Notched primary central incisor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025524","label":"Palmoplantar scaling skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012384","label":"Rhinitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033782","label":"Semilunar tooth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100769","label":"Synovitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011120","label":"Concave nasal ridge","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Very rare (<4-1%)","criteria":null}]}}