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Start free with EleplanAcitretin/etretinate embryopathy
ORPHA:40366Malformation syndrome
Also called Fetal acitretin/etretinate syndrome · Retinoid embryopathy
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Not applicable
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
21- Abnormal facial shape
- Abnormality of the calcaneus
- Abnormal retinal morphology
- Anteverted nares
- Aplasia/Hypoplasia of the maxilla
- Aplasia/Hypoplasia of the optic nerve
- Atrioventricular canal defect
- Bilateral sensorineural hearing impairment
- Bradycardia
- Conotruncal defect
- Cupped ear
- Epicanthus
- High palate
- Hypoplasia of the thymus
- Hypoplastic nasal septum
- Median cleft palate
- Microcephaly
- Micrognathia
- Microtia
- Neurodevelopmental abnormality
- Premature birth
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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