aminopterin/methotrexate embryofetopathy
MONDO:0016004Mondo
Findings
No curated finding names aminopterin/methotrexate embryofetopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Aminopterin/Methotrexate embryofetopathy is 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.
Definition from the Mondo Disease Ontology (MONDO:0016004), read 2026-09-29. CC BY 4.0.
Features
33 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AnencephalyHPOHP:0002323
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- HydrocephalusHPOHP:0000238
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Mandibular prognathiaHPOHP:0000303
- Very frequent (80% to 99% of cases)
- MesomeliaHPOHP:0003027
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- ProptosisHPOHP:0000520
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
- Underdeveloped supraorbital ridgesHPOHP:0009891
- Very frequent (80% to 99% of cases)
- Wide nasal bridgeHPOHP:0000431
- Very frequent (80% to 99% of cases)
Show the remaining 21
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- EncephaloceleHPOHP:0002084
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- MeningoceleHPOHP:0002435
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
Where it sits
Other names
3 names
Resolves to: aminopterin/methotrexate embryofetopathy
- Also called
- aminopterin embryopathy syndromefetal aminopterin syndromefoetal aminopterin syndrome