Phenobarbital embryopathy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A teratologic disorder associated with intrauterine exposure of phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Phenobarbital embryopathy | |
| fr | Embryopathie au phénobarbital | Exposition anténatale au phénobarbital |
| de | Phenobarbital-Embryopathie | Antiepileptika-Embryofetopathie · Phenobarbital-Exposition, vorgeburtliche |
| es | Embriopatía por fenobarbital | Exposición fetal a fenobarbital |
| it | Embriopatia da fenobarbital | Esposizione prenatale al fenobarbital |
| nl | Fenobarbital-embryopathie | Prenatale blootstelling aan fenobarbital |
| pt | Embriofetopatia por fenobarbital | Síndrome fenobarbital fetal |
| pl | Embriopatia fenobarbitolowa | Prenatalne zatrucie fenobarbitalem |
| cs | Fenobarbitalová embryopatie | |
| uk | Фенобарбіталова ембріопатія | |
| zh | 苯巴比妥胚胎病 | |
| tr | Fenobarbital embriyopati |
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 | 0016015 | E | validated | |
| UMLS | C4275281 | E | validated | |
| GARD | 4315 | 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
16 annotations · validated 2019-06-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012808 | Abnormal nasal base | |
| HP:0008386 | Aplasia/Hypoplasia of the nails | |
| HP:0001156 | Brachydactyly | |
| HP:0000286 | Epicanthus | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0000303 | Mandibular prognathia | |
| HP:0100333 | Unilateral cleft lip | |
| Occasional (29-5%) | ||
| HP:0001633 | Abnormal mitral valve morphology | |
| HP:0006265 | Aplasia/Hypoplasia of fingers | |
| HP:0000047 | Hypospadias | |
| HP:0000272 | Malar flattening | |
| HP:0000252 | Microcephaly | |
| HP:0001636 | Tetralogy of Fallot | |
Annotation source: 11297704[PMID]_7474220[PMID]_4886955[PMID]_2107397[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1919
- This record as JSON: /data/d/1919.json