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Aminopterin/methotrexate embryofetopathy

Disease definition

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.

ORPHA:1908

Classification level: Disorder
  • Synonym(s):
    • Aminopterin embryopathy syndrome
    • Fetal aminopterin syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q86.8
  • OMIM: -
  • UMLS: C0432367
  • MeSH: -
  • GARD: 2294
  • MedDRA: 10071183
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