Fetal carbamazepine syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Fetal carbamazepine syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome, such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. <i>In utero</i> exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fetal carbamazepine syndrome | |
| fr | Embryofoetopathie à la carbamazépine | |
| de | Fetales Carbamazepin-Syndrom | |
| es | Síndrome fetal por carbamazepina | |
| it | Sindrome fetale da carbamazepina | |
| nl | Foetaal carbamazepinesyndroom | Syndroom bij foetus door carbamazepine |
| pt | Síndrome da carbamazepina fetal | |
| pl | Zespół karbamazepinowy płodu | |
| cs | Fetální karbamazepinový syndrom | |
| uk | Фетальний карбамазепіновий синдром | |
| zh | 胎儿卡马西平综合征 | |
| tr | Fetal karbamazepin 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 | 0018263 | E | validated | |
| UMLS | C0432370 | 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:370068Fetal anticonvulsant syndrome
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370076
- This record as JSON: /data/d/370076.json