ORPHA:1908
Aminopterin/methotrexate embryofetopathy
Synonyms: Aminopterin embryopathy syndrome · Fetal aminopterin syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aminopterin/methotrexate embryofetopathy | Aminopterin embryopathy syndrome · Fetal aminopterin syndrome |
| fr | Embryofoetopathie à l'aminoptérine/méthotrexate | Exposition anténatale au méthotrexate · Exposition anténatale à l'aminoptérine |
| de | Aminopterin/Methotrexat-Embryopathie | Aminopterin-Embryopathie · Aminopterin-Exposition, vorgeburtliche · Aminopterin-Syndrom, fetales |
| es | Embriofetopatía por aminopterina/metotrexato | Síndrome de aminopterina fetal · Síndrome de embriopatía por aminopterina |
| it | Embriofetopatia da aminopterina/methotrexate | Embriopatia sindromica da aminopterina · Sindrome fetale da aminopterina |
| nl | Aminopterine/methotrexaat-embryofoetopathie | Aminopterine-embryopathiesyndroom · Foetaal aminopterinesyndroom |
| pt | Embriofetopatia por aminopterina/metotrexato | Síndrome aminopterina fetal |
| pl | Embriofetopatia aminopterynowa/metotreksatowa | Płodowy zespół aminopterynowy · Zespół embriopatii aminopterynowej |
| cs | Aminopterinová/metotrexátová embryofetopatie | Syndrom aminopterinové embryopatie · Fetální aminopterinový syndrom |
| uk | Аміноптерин/метотрексатна ембріофетопатія | Синдром аміноптеринової ембріопатії · Фетальний аміноптериновий синдром |
| zh | 氨基蝶呤/甲氨蝶呤胚胎胎儿病 | 氨基蝶呤胚胎病综合征 |
| tr | Aminopterin / metotreksat embriyofetopati | fetal aminopterin sendromu · Aminopterin embriyopati sendromu |
Definition in:
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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 | 0016004 | E | validated | |
| UMLS | C0432367 | E | validated | |
| GARD | 2294 | E | validated | |
| MedDRA | 10071183 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 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.
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HPO phenotypes
33 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002323 | Anencephaly | |
| HP:0000286 | Epicanthus | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0000303 | Mandibular prognathia | |
| HP:0003027 | Mesomelia | |
| HP:0002983 | Micromelia | |
| HP:0000520 | Proptosis | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000175 | Cleft palate | |
| HP:0002084 | Encephalocele | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002435 | Meningocele | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001883 | Talipes | |
| Occasional (29-5%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0006101 | Finger syndactyly | |
| HP:0001360 | Holoprosencephaly | |
| HP:0004935 | Pulmonary artery atresia | |
| HP:0001696 | Situs inversus totalis | |
| HP:0001792 | Small nail | |
| HP:0010301 | Spinal dysraphism | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1908
- This record as JSON: /data/d/1908.json