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Trigonocephaly-short stature-developmental delay syndrome

ORPHA:3369 · Malformation syndrome · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(3)

  • Global developmental delayHP:0001263
  • Short statureHP:0004322
  • TrigonocephalyHP:0000243

Frequent (79-30%)(20)

  • Broad secondary alveolar ridgeHP:0000216
  • Convex nasal ridgeHP:0000444
  • EpicanthusHP:0000286
  • Fifth finger distal phalanx clinodactylyHP:0005769
  • High palateHP:0000218
  • HypotelorismHP:0000601
  • Inguinal herniaHP:0000023
  • Metopic suture patent to nasal rootHP:0005495
  • Moderate intellectual disabilityHP:0002342
  • Multiple suture craniosynostosisHP:0011324
  • Narrow foreheadHP:0000341
  • Posteriorly rotated earsHP:0000358
  • Postnatal growth retardationHP:0008897
  • Premature posterior fontanelle closureHP:0005494
  • Secondary microcephalyHP:0005484
  • SeizureHP:0001250
  • Small anterior fontanelleHP:0000237
  • Small for gestational ageHP:0001518
  • Ventricular septal defectHP:0001629
  • Wide nasal bridgeHP:0000431