Fetal trimethadione syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fetal trimethadione syndrome | |
| fr | Embryopathie à la triméthadione | Exposition anténatale à la triméthadione |
| de | Trimethadion-Embryopathie | Trimethadion-Exposition, vorgeburtliche · Trimethadion-Syndrom, fetales |
| es | Síndrome fetal por trimetadiona | Embriopatía por trimetadiona · Exposición fetal a la trimetadiona |
| it | Embriopatia da trimetadione | Esposizione prenatale al trimetadione |
| nl | Foetaal trimethadionsyndroom | Antenatale trimethadioninfectie |
| pt | Síndrome trimetadiona fetal | Embriofetopatia por trimetadiona |
| pl | Płodowy zespół trimetadionowy | |
| cs | Fetální trimetadionový syndrom | |
| uk | Фетальний триметадіоновий синдром | |
| zh | 胎儿三甲双酮综合征 | |
| tr | Fetal trimetadiyon 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 | index | validated |
| MONDO | 0016009 | E | validated | |
| MeSH | C537798 | E | validated | |
| UMLS | C0265373 | 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:370068Fetal anticonvulsant syndrome
rare developmental anomalies during embryogenesis; rare disorders due to toxic effects; rare teratologic disorders - ORPHA:138059Teratogenic Pierre Robin syndrome
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
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
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011039 | Abnormal helix morphology | |
| HP:0000248 | Brachycephaly | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000286 | Epicanthus | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0000396 | Overfolded helix | |
| HP:0011220 | Prominent forehead | |
| HP:0003196 | Short nose | |
| HP:0000664 | Synophrys | |
| Frequent (79-30%) | ||
| HP:0000062 | Ambiguous genitalia | |
| HP:0001631 | Atrial septal defect | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000218 | High palate | |
| HP:0000047 | Hypospadias | |
| HP:0000252 | Microcephaly | |
| HP:0000508 | Ptosis | |
| HP:0000486 | Strabismus | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0002650 | Scoliosis | |
| HP:0001669 | Transposition of the great arteries | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1913
- This record as JSON: /data/d/1913.json