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Acitretin/etretinate embryopathy
Disease definition
A rare 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.
ORPHA:40366
Classification level: Disorder- Synonym(s):
- Fetal acitretin/etretinate syndrome
- Retinoid embryopathy
- Prevalence: <1 / 1 000 000
- Inheritance: Not applicable
- Age of onset: Antenatal, Neonatal
- ICD-10: Q86.8
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
To date, 3 infants/fetuses with anomalies indicative or possibly indicative for the embryopathy whose mothers were treated with acitretin during the first trimester of pregnancy have been reported in the literature. In addition, 23 infants/fetuses with anomalies indicative or possibly indicative for the embryopathy whose mothers were treated with etretinate during the first trimester or before pregnancy have been reported in the literature.
Clinical description
Acitretin/Etretinate embryopathy is characterized by multiple congenital anomalies involving the central nervous system (with neurodevelopmental delay), retinal or optic-nerve, craniofacial (microcephaly, facial dysmorphism displaying epicanthal folds, low nasal bridge, anteverted nostrils, high and cleft palate, micrognathia) and ear abnormalities (microtia/anotia, cup-shaped ears, bilateral sensorineural deafness). Thymic and cardiac defects (atrioventricular canal defect, conotruncal heart malformation, aortic-arch defect) are also observed. Severe anomalies of upper and lower limbs have also been described.
Etiology
Acitretin/etretinate embryopathy is due to acitretin or etretinate exposure during the first trimester of pregnancy. Acitretin is an aromatic retinoid analog of vitamin A used for the treatment of severe forms of psoriasis and disorders of keratinization. Acitretin/etretinate have a teratogenic potential since it affects cellular differentiation and proliferation.
A summary on this disease is available in Español (2014) Français (2014) Nederlands (2014) Deutsch (2003)
Additional information