Isotretinoin syndrome

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Synonyms: Isotretinoin embryopathy | Retinoic acid embryopathy | Retinoids embryopathy

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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