/isotretinoin syndrome

isotretinoin syndrome

Rare Disease

MONDO:0016467

Also Known As

Fetal Retinoid SyndromeIsotretinoin embryopathyRetinoids embryopathyfetal isotretinoin syndromefetal retinoid syndromefoetal isotretinoin syndromefoetal retinoid syndromeretinoic acid embryopathyAccutane fetal effects ofAccutane foetal effects ofAccutane-exposed pregnanciesAcutane embryopathyIsotretinoin (RoAccutane) embryopathyIsotretinoin fetal effects ofIsotretinoin foetal effects ofIsotretinoin teratogen syndrome

Definition

Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of 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. Isoretinoin is contraindicated during pregnancy.