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Aminopterin/methotrexate embryofetopathy

ORPHA:1908 · Malformation syndrome · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(12)

  • AnencephalyHP:0002323
  • EpicanthusHP:0000286
  • HydrocephalusHP:0000238
  • HypertelorismHP:0000316
  • Mandibular prognathiaHP:0000303
  • MesomeliaHP:0003027
  • MicromeliaHP:0002983
  • ProptosisHP:0000520
  • Short statureHP:0004322
  • Skeletal dysplasiaHP:0002652
  • Underdeveloped supraorbital ridgesHP:0009891
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(9)

  • Cleft palateHP:0000175
  • EncephaloceleHP:0002084
  • Intrauterine growth retardationHP:0001511
  • MeningoceleHP:0002435
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Non-midline cleft of the upper lipHP:0100335
  • Posteriorly rotated earsHP:0000358
  • TalipesHP:0001883

Occasional (29-5%)(12)

  • Abnormal fingernail morphologyHP:0001231
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Aplasia/Hypoplasia of the thumbHP:0009601
  • Finger syndactylyHP:0006101
  • HoloprosencephalyHP:0001360
  • Pulmonary artery atresiaHP:0004935
  • Situs inversus totalisHP:0001696
  • Small nailHP:0001792
  • Spinal dysraphismHP:0010301
  • Tetralogy of FallotHP:0001636
  • Ventricular septal defectHP:0001629