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Edinburgh malformation syndrome

ORPHA:1895 · Malformation syndrome · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(10)

  • Abnormality of the voiceHP:0001608
  • Aplasia/Hypoplasia affecting the eyeHP:0008056
  • Choanal atresiaHP:0000453
  • Downturned corners of mouthHP:0002714
  • Failure to thriveHP:0001508
  • Frontal bossingHP:0002007
  • HirsutismHP:0001007
  • Intellectual disabilityHP:0001249
  • Respiratory insufficiencyHP:0002093
  • Thin vermilion borderHP:0000233

Frequent (79-30%)(12)

  • Anteverted naresHP:0000463
  • Generalized hirsutismHP:0002230
  • HydrocephalusHP:0000238
  • HypertoniaHP:0001276
  • Long fingersHP:0100807
  • Low posterior hairlineHP:0002162
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • SeizureHP:0001250
  • Short noseHP:0003196
  • Slender fingerHP:0001238
  • SynophrysHP:0000664

Occasional (29-5%)(6)

  • Abnormality of neuronal migrationHP:0002269
  • Accelerated skeletal maturationHP:0005616
  • Brushfield spotsHP:0001088
  • Joint stiffnessHP:0001387
  • Narrow mouthHP:0000160
  • Ulnar deviation of fingerHP:0009465