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Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.
Features include common findings: High palate, Microcephaly, Epicanthus, and Micrognathia and others; and sometimes findings: Preauricular skin tag, Third degree atrioventricular block, Aplasia/hypoplasia involving bones of the lower limbs, and Aplasia/hypoplasia involving bones of the upper limbs and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 5 | High palate, Microcephaly, Abnormal facial shape |
Phenotype severity distribution: 21 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 3:11 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about acitretin/etretinate embryopathy
Eyes | 2 | Abnormal retinal morphology, Aplasia/Hypoplasia of the optic nerve |
Heart and blood vessels | 2 | Bradycardia, Third degree atrioventricular block |
Bones and joints | 2 | Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the upper limbs |
Arms and legs | 2 | Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the upper limbs |
Ears | 1 | Bilateral sensorineural hearing impairment |
Skin | 1 | Preauricular skin tag |