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SIX2-related frontonasal dysplasia

ORPHA:488437 · Malformation syndrome · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(8)

  • Absent/hypoplastic paranasal sinusesHP:0005453
  • Aplasia/Hypoplasia of the frontal sinusesHP:0009119
  • Broad nasal tipHP:0000455
  • Depressed nasal bridgeHP:0005280
  • Epicanthus inversusHP:0000537
  • Frontal bossingHP:0002007
  • High foreheadHP:0000348
  • PtosisHP:0000508

Frequent (79-30%)(11)

  • Abnormal skull base morphologyHP:0002693
  • HypertelorismHP:0000316
  • Intrauterine growth retardationHP:0001511
  • MacrocephalyHP:0000256
  • Metopic synostosisHP:0011330
  • Posteriorly rotated earsHP:0000358
  • Premature posterior fontanelle closureHP:0005494
  • Prominent palatine ridgesHP:0010291
  • Short statureHP:0004322
  • Small for gestational ageHP:0001518
  • Wide anterior fontanelHP:0000260

Excluded (0%)(3)

  • Abnormality of the kidneyHP:0000077
  • Abnormality of the thyroid glandHP:0000820
  • Global developmental delayHP:0001263