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Fetal hydantoin syndrome

ORPHA:1912 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(6)

  • Abnormal dermatoglyphicsHP:0007477
  • Abnormal pinna morphologyHP:0000377
  • Depressed nasal ridgeHP:0000457
  • Hearing abnormalityHP:0000364
  • Posteriorly rotated earsHP:0000358
  • Short noseHP:0003196

Frequent (79-30%)(20)

  • Abnormal cranial suture/fontanelle morphologyHP:0000235
  • Bifid scrotumHP:0000048
  • Coarse hairHP:0002208
  • EpicanthusHP:0000286
  • Everted lower lip vermilionHP:0000232
  • Global developmental delayHP:0001263
  • HerniaHP:0100790
  • HypertelorismHP:0000316
  • Hypoplastic fingernailHP:0001804
  • Intrauterine growth retardationHP:0001511
  • Low posterior hairlineHP:0002162
  • MicrocephalyHP:0000252
  • PtosisHP:0000508
  • Short distal phalanx of fingerHP:0009882
  • Short statureHP:0004322
  • StrabismusHP:0000486
  • Thickened nuchal skin foldHP:0000474
  • Triphalangeal thumbHP:0001199
  • Wide intermamillary distanceHP:0006610
  • Wide mouthHP:0000154

Occasional (29-5%)(4)

  • Abnormality of the cardiovascular systemHP:0001626
  • Cleft palateHP:0000175
  • CryptorchidismHP:0000028
  • NeoplasmHP:0002664