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Trichorhinophalangeal syndrome type 1

ORPHA:77258 · Malformation syndrome · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(18)

  • Bulbous noseHP:0000414
  • Clinodactyly of the 5th fingerHP:0004209
  • Cone-shaped epiphysisHP:0010579
  • Frontal bossingHP:0002007
  • Long philtrumHP:0000343
  • Long upper lipHP:0011341
  • MacrotiaHP:0000400
  • MicrognathiaHP:0000347
  • Protruding earHP:0000411
  • Short distal phalanx of fingerHP:0009882
  • Short metacarpalHP:0010049
  • Short metatarsalHP:0010743
  • Short statureHP:0004322
  • Shortening of all phalanges of fingersHP:0011910
  • Sparse eyebrowHP:0045075
  • Sparse eyelashesHP:0000653
  • Sparse hairHP:0008070
  • Triangular faceHP:0000325

Frequent (79-30%)(11)

  • Abnormality of the dentitionHP:0000164
  • Avascular necrosis of the capital femoral epiphysisHP:0005743
  • Camptodactyly of fingerHP:0100490
  • Fragile nailsHP:0001808
  • High palateHP:0000218
  • HyperlordosisHP:0003307
  • HypotoniaHP:0001252
  • LeukonychiaHP:0001820
  • Pectus carinatumHP:0000768
  • ScoliosisHP:0002650
  • Supernumerary toothHP:0011069