Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare tetrogenic embryofetopathy due to exposure to isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Disease data Classification Malformation syndrome Synonyms Isotretinoin embryopathy Embriopatia izotretynoinowa Embriopatia kwasu retinoidowego Embriopatia retinoidowa Retinoic acid embryopathy Retinoids embryopathy ORPHA code 2305 OMIM code - ICD10 code Q86.8 ICD11 code LD2F.0Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl