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Jackson-Weiss syndrome

ORPHA:1540 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(7)

  • Broad hallux phalanxHP:0010059
  • Broad metatarsalHP:0001783
  • HypertelorismHP:0000316
  • Midface retrusionHP:0011800
  • Short metatarsalHP:0010743
  • Toe syndactylyHP:0001770
  • TurricephalyHP:0000262

Frequent (79-30%)(9)

  • Abnormal palate morphologyHP:0000174
  • Convex nasal ridgeHP:0000444
  • Frontal bossingHP:0002007
  • Hypoplasia of the maxillaHP:0000327
  • Mandibular prognathiaHP:0000303
  • ProptosisHP:0000520
  • PtosisHP:0000508
  • StrabismusHP:0000486
  • Underdeveloped supraorbital ridgesHP:0009891

Occasional (29-5%)(5)

  • 2-3 toe syndactylyHP:0004691
  • Abnormal fibula morphologyHP:0002991
  • Preaxial foot polydactylyHP:0001841
  • Split footHP:0001839
  • Symphalangism affecting the phalanges of the handHP:0009773