Acitretin/etretinate embryopathy
Synonyms: Fetal acitretin/etretinate syndrome · Retinoid embryopathy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acitretin/etretinate embryopathy | Fetal acitretin/etretinate syndrome · Retinoid embryopathy |
| fr | Embryopathie à l'acitrétine/étrétinate | Embryopathie aux rétinoïdes · Exposition anténatale à l'acitrétine ou l'étrétinate |
| de | Acitretin/Etretinat-Embryofetopathie | Fetales Acitretin/Etretinat-Syndrom |
| es | Embriofetopatía por acitretina/etretinato | Embriopatía retinoide · Síndrome de acitretina/etretinato fetal |
| it | Embriopatia da acitretina/etretinato | Embriopatia da retinoidi · Sindrome fetale da acitretina/etretinato |
| nl | Acitretine/etretinaat-embryopathie | Foetaal acitretine/etretinaatsyndroom · Retinoïde-embryopathie |
| pt | Embriofetopatia por acitretina/etretinato | Embriopatia retinóide · Síndrome de acitretina/etretinato fetal |
| pl | Embriopatia acytretynowa/etretynatowa | Embriopatia retinoidowa · Płodowy zespół acytretynowy/etretynatowy |
| cs | Acitretinová/etretinátová embryopatie | Fetální acitretinový/etretinátový syndrom · Retinoidní embryopatie · Embryopatie způsobená kyselinou retinovou |
| uk | Ацитретинова/етретинова ембріопатія | Фетальний ацитретин/етретинатний синдром · Ретиноїдна ембріопатія |
| zh | 阿维A酸/阿维A酯胚胎病 | 胎儿阿维A酸（酯）综合征 |
| tr | Asitretin/etretinat embriyopati | Retinoid embriyopati · fetal asitretin/etretinat sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q86.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.0Y | NTBT | attributed | validated |
| MONDO | 0018442 | E | validated | |
| UMLS | C4510941 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:251529Toxic or drug-related embryofetopathy
rare developmental anomalies during embryogenesis; rare disorders due to toxic effects; rare teratologic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 26 cases | Worldwide | Case(s) | Validated | 18410980[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
27 annotations · validated 2017-08-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011438 | Maternal teratogenic exposure | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000479 | Abnormal retinal morphology | |
| HP:0008364 | Abnormality of the calcaneus | |
| HP:0000463 | Anteverted nares | |
| HP:0009117 | Aplasia/Hypoplasia of the maxilla | |
| HP:0008058 | Aplasia/Hypoplasia of the optic nerve | |
| HP:0006695 | Atrioventricular canal defect | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0001662 | Bradycardia | |
| HP:0001710 | Conotruncal defect | |
| HP:0000378 | Cupped ear | |
| HP:0000286 | Epicanthus | |
| HP:0000218 | High palate | |
| HP:0000778 | Hypoplasia of the thymus | |
| HP:0005104 | Hypoplastic nasal septum | |
| HP:0009099 | Median cleft palate | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0008551 | Microtia | |
| HP:0012759 | Neurodevelopmental abnormality | |
| HP:0001622 | Premature birth | |
| Occasional (29-5%) | ||
| HP:0009760 | Antecubital pterygium | |
| HP:0006493 | Aplasia/hypoplasia involving bones of the lower limbs | |
| HP:0006496 | Aplasia/hypoplasia involving bones of the upper limbs | |
| HP:0000384 | Preauricular skin tag | |
| HP:0001709 | Third degree atrioventricular block | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 26402853[PMID]_15470719[PMID]_8838291[PMID]_8075435[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/40366
- This record as JSON: /data/d/40366.json