Isotretinoin syndrome
Synonyms: Isotretinoin embryopathy · Retinoic acid embryopathy · Retinoids embryopathy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare tetrogenic embryofetopathy due to exposure to isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isotretinoin syndrome | Isotretinoin embryopathy · Retinoic acid embryopathy · Retinoids embryopathy |
| fr | Syndrome isotrétinoïne | Embryofoetopathie aux rétinoïdes · Embryofoetopathie à l'isotrétinoïne · Embryopathie à l'acide rétinoïque |
| de | Isotretinoin-Syndrom | Isotretinoin-Embryofetopathie |
| es | Síndrome por isotretinoina | Embriopatía por isotretinoina · Embriopatía por retinoides · Embriopatía por ácido retinoico |
| it | Sindrome da isotretinoina | Embriopatia da acido retinoico · Embriopatia da isotretinoina · Embriopatia da retinoidi |
| nl | Isotretinoïnesyndroom | Isotretinoïne-embryopathie · Retinoïde-embryopathie · Retinoïnezuur-embryopathie |
| pt | Síndrome isotretinoína | Embriopatia por isotretinoína · Embriopatia por retinóides |
| pl | Zespół izotretynoinowy | Embriopatia izotretynoinowa · Embriopatia kwasu retinoidowego · Embriopatia retinoidowa |
| cs | Izotretinoinový syndrom | Izotretinoinová embryopatie · Embryopatie z kyseliny retinové · Retinoidní embryopatie |
| uk | Ізотретиноїновий синдром | Ізотретиноїдна ембріопатія · Ембріопатія ретиноєвої кислоти · Ретиноїдна ембріопатія |
| zh | 异维甲酸综合征 | 维甲酸胚胎病 |
| tr | İzotretinoin sendromu | Retinoid embriyopatisi · İzotretinoin embriyopatisi · Retinoik asit embriyopatisi |
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 | index | validated |
| MONDO | 0016467 | E | validated | |
| MeSH | C535670 | E | validated | |
| UMLS | C2930972 | 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 (2):
- ORPHA:138059Teratogenic Pierre Robin syndrome
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000356 | Abnormality of the outer ear | |
| HP:0001252 | Hypotonia | |
| HP:0008551 | Microtia | |
| HP:0001315 | Reduced tendon reflexes | |
| Frequent (79-30%) | ||
| HP:0004422 | Biparietal narrowing | |
| HP:0000175 | Cleft palate | |
| HP:0100543 | Cognitive impairment | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0000347 | Micrognathia | |
| Occasional (29-5%) | ||
| HP:0000960 | Sacral dimple | |
| HP:0003298 | Spina bifida occulta | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2305
- This record as JSON: /data/d/2305.json