Methimazole embryofetopathy
Synonyms: MMI/CMZ embryofetopathy · MMI/CMZ embryopathy · Methimazole/carbimazole embryofetopathy · Methimazole/carbimazole embryopathy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Methimazole embryofetopathy | MMI/CMZ embryofetopathy · MMI/CMZ embryopathy · Methimazole/carbimazole embryofetopathy · Methimazole/carbimazole embryopathy |
| fr | Embryofoetopathie au méthimazole | Embryofoetopathie au MMI/CMZ · Embryofoetopathie au méthimazole/carbimazole · Embryopathie au MMI/CMZ · Embryopathie au méthimazole/carbimazole · Exposition anténatale au MMI/CMZ · Exposition anténatale au méthimazole/carbimazole |
| de | Methimazol-Embryofetopathie | Carbimazol-Embryofetopathie · MMI/CMZ-Embryofetopathie · MMI/CMZ-Embryopathie · Methimazol/Carbimazol-Embryofetopathie · Methimazol/Carbimazol-Embryopathie |
| es | Embriofetopatía por metimazol | Embriofetopatía MMI/CMZ · Embriofetopatía por metimazol/carbimazol · Embriopatía MMI/CMZ · Embriopatía por metimazol/carbimazol |
| it | Embrio/fetopatia da metimazolo | Embriofetopatia da carbimazolo |
| nl | Methimazol-embryofoetopathie | MMI/CMZ-embryofoetopathie · MMI/CMZ-embryopathie · Methimazol/carbimazol-embryofoetopathie · Methimazol/carbimazol-embryopathie |
| pt | Embriofetopatia por metimazol | |
| pl | Embriofetopatia metimazolowa | Embriopatia metimazolowa/karbamizolowa · Embriofetopatia metimazolowa/karbamizolowa |
| cs | Methimazolová embryopatie | Karbimazolová embryopatie |
| uk | Метимазолова ембріофетопатія | Метимазолова/карбімазолова ембріофетопатія · Метимазолова/карбімазолова ембріопатія · Ембріофетопатія MMI/CMZ · Ембріопатія MMI/CMZ |
| zh | 甲巯咪唑胚胎胎儿病 | 甲巯咪唑/卡比马唑胚胎胎儿病 |
| tr | Metimazol embriyofetopatisi | MMI / CMZ embriyopati · MMI / CMZ embriyofetopati · Metimazol / karbimazol embriyopatisi · Metimazol / karbimazol embriyofetopati |
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 | 0016017 | E | validated | |
| UMLS | C4510379 | E | validated | |
| GARD | 3573 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002032 | Esophageal atresia | |
| HP:0000821 | Hypothyroidism | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001561 | Polyhydramnios | |
| HP:0002575 | Tracheoesophageal fistula | |
| Frequent (79-30%) | ||
| HP:0001679 | Abnormal aortic morphology | |
| HP:0000820 | Abnormality of the thyroid gland | |
| HP:0000453 | Choanal atresia | |
| HP:0001680 | Coarctation of aorta | |
| HP:0000047 | Hypospadias | |
| HP:0001362 | Skull defect | |
| HP:0100589 | Urogenital fistula | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1923
- This record as JSON: /data/d/1923.json