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Greig cephalopolysyndactyly syndrome

ORPHA:380 · Malformation syndrome · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(3)

  • MacrocephalyHP:0000256
  • Postaxial hand polydactylyHP:0001162
  • Preaxial foot polydactylyHP:0001841

Frequent (79-30%)(8)

  • Accelerated skeletal maturationHP:0005616
  • Finger syndactylyHP:0006101
  • Frontal bossingHP:0002007
  • High foreheadHP:0000348
  • HypertelorismHP:0000316
  • TelecanthusHP:0000506
  • Toe syndactylyHP:0001770
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(11)

  • Agenesis of corpus callosumHP:0001274
  • Broad hallux phalanxHP:0010059
  • Broad thumbHP:0011304
  • Congenital diaphragmatic herniaHP:0000776
  • CraniosynostosisHP:0001363
  • HydrocephalusHP:0000238
  • Mild intellectual disabilityHP:0001256
  • Postaxial foot polydactylyHP:0001830
  • Preaxial hand polydactylyHP:0001177
  • SeizureHP:0001250
  • Umbilical herniaHP:0001537