{"orpha":2306,"name":"Isotretinoin-like syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Kawashima syndrome","Microtia-aortic arch syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including small, malformed or missing ears, micrognathia, and cleft palate), conotruncal heart defects, aortic arch anomalies, and central nervous system anomalies including hydrocephalus and posterior fossa abnormalities. Clinical features overlap with isotretinoin syndrome/isotretinoin embryopathy, occurs following maternal treatment with isotretinoin, however these patients have no prenatal history of exposure to isotretinoin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2306/","orphanet_url":"https://www.orpha.net/en/disease/detail/2306","names":{"fr":{"name":"Syndrome isotretinoïne-like","synonyms":["Syndrome de Kawashima","Syndrome de microtie-anomalie de la crosse aortique"],"definition":"Le syndrome isotrétionoïne-like est une phénocopie de l'embryopathie à l'isotrétinoïne."},"de":{"name":"Isotretinoin-ähnliches-Syndrom","synonyms":["Kawashima-Syndrom","Mikrotie - Aortenbogensyndrom"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, das durch Gesichtsdysmorphie (einschließlich kleiner, fehlgebildeter oder fehlender Ohren, Mikrognathie und Gaumenspalte), konotrunkale Herzfehler, Aortenbogenanomalien und Anomalien des Zentralnervensystems einschließlich Hydrozephalus und Anomalien der hinteren Schädelgrube gekennzeichnet ist. Die klinischen Merkmale überschneiden sich mit dem Isotretinoin-Syndrom/der Isotretinoin-Embryopathie, treten nach einer Behandlung der Mutter mit Isotretinoin auf, jedoch haben diese Patienten keine pränatale Vorgeschichte einer Isotretinoin-Exposition."},"es":{"name":"Síndrome similar al síndrome por isotretinoina","synonyms":["Síndrome de isotretinoina-like"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente, caracterizado por dismorfia facial (incluyendo orejas pequeñas, malformadas o ausentes, micrognatia y paladar hendido), cardiopatías conotruncales, anomalías del arco aórtico y alteraciones del sistema nervioso central, incluyendo hidrocefalia y anomalías de la fosa posterior. Las características clínicas son solapantes con el síndrome/embriopatía por isotretinoína que se presentan tras el tratamiento materno con isotretinoína; sin embargo, estos pacientes no tienen antecedentes prenatales de exposición a la isotretinoína."},"it":{"name":"Sindrome isotretinoina-simile","synonyms":["Microtia - anomalia dell'arco aortico","Sindrome di Kawashima"]},"nl":{"name":"Isotretinoïne-achtig syndroom","synonyms":["Kawashimasyndroom","Microtie-aortaboogsyndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door faciale dysmorfie (met onder meer kleine, misvormde of ontbrekende oren, micrognathie, en gespleten gehemelte), conotruncale hartdefecten, anomalieën van aortaboog, en anomalieën van centraal zenuwstelsel waaronder hydrocefalie en afwijkingen van achterste schedelgroeve. Klinische kenmerken overlappen met isotretinoïnesyndroom/isotretinoïne-embryopathie, dat optreedt na behandeling van de moeder met isotretinoïne, maar deze patiënten hebben geen prenatale voorgeschiedenis van blootstelling aan isotretinoïne."},"pt":{"name":"Síndrome isotretinoina-<i>like","synonyms":["Síndrome Kawashima","Síndrome de microtia-síndrome do arco aórtico"]},"pl":{"name":"Zespół pseudo-izotretynoinowy","synonyms":["Zespół Kawashima","Zespół małe uszy - łuk aorty"]},"cs":{"name":"Syndrom podobný izotretinoinovému syndromu","synonyms":["Kawashimové syndrom","Syndrom zahrnující mikrocii a aortální oblouk"]},"uk":{"name":"Ізотретиноїноподібний синдром","synonyms":["Синдром Кавасіми","Синдром мікротії дуги аорти"],"definition":"Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy."},"zh":{"name":"类异维甲酸综合征","synonyms":["小耳畸形-主动脉弓综合征"]},"tr":{"name":"İzotretinoin benzeri sendrom","synonyms":["Kawashima sendromu","Mikroti-aortik ark sendromu"]}},"xrefs":[{"source":"OMIM","code":"243440","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009473","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535542","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432364","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9675","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"15602090[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15602090[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-23","source":"12548746[PMID]_15602090[PMID]_3478461[PMID]_6587131[PMID]","terms":[{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012303","label":"Abnormal aortic arch morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005120","label":"Abnormal cardiac atrium morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001713","label":"Abnormal cardiac ventricle morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000932","label":"Abnormality of the posterior cranial fossa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011718","label":"Abnormality of the pulmonary veins","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008774","label":"Aplasia/Hypoplasia of the inner ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001710","label":"Conotruncal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005301","label":"Persistent left superior vena cava","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009892","label":"Anotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Excluded (0%)","criteria":null}]}}