acitretin/etretinate embryopathy
Findings
No curated finding names acitretin/etretinate embryopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0018442), read 2026-09-29. CC BY 4.0.
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Abnormal retinal morphologyHPOHP:0000479
- Frequent (30% to 79% of cases)
- Abnormality of the calcaneusHPOHP:0008364
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the maxillaHPOHP:0009117
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the optic nerveHPOHP:0008058
- Frequent (30% to 79% of cases)
- Atrioventricular canal defectHPOHP:0006695
- Frequent (30% to 79% of cases)
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- Frequent (30% to 79% of cases)
- BradycardiaHPOHP:0001662
- Frequent (30% to 79% of cases)
- Conotruncal defectHPOHP:0001710
- Frequent (30% to 79% of cases)
- Cupped earHPOHP:0000378
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
Show the remaining 14
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- Hypoplasia of the thymusHPOHP:0000778
- Frequent (30% to 79% of cases)
- Hypoplastic nasal septumHPOHP:0005104
- Frequent (30% to 79% of cases)
- Median cleft palateHPOHP:0009099
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
Where it sits
Other names
3 names
Resolves to: acitretin/etretinate embryopathy
- Also called
- fetal acitretin/etretinate syndromefoetal acitretin/etretinate syndromeretinoid embryopathy