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Trichorhinophalangeal syndrome type 2

ORPHA:502 · Malformation syndrome · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(13)

  • Bone painHP:0002653
  • Bulbous noseHP:0000414
  • Cone-shaped epiphyses of the phalanges of the handHP:0010230
  • Deep philtrumHP:0002002
  • Delayed skeletal maturationHP:0002750
  • ExostosesHP:0100777
  • Long philtrumHP:0000343
  • Multiple long-bone exostosesHP:0005039
  • Posteriorly rotated earsHP:0000358
  • Protruding earHP:0000411
  • Short statureHP:0004322
  • Sparse scalp hairHP:0002209
  • Thin upper lip vermilionHP:0000219

Frequent (79-30%)(6)

  • Aplasia/Hypoplasia of the mandibleHP:0009118
  • Intellectual disabilityHP:0001249
  • Joint dislocationHP:0001373
  • Joint hypermobilityHP:0001382
  • Redundant skinHP:0001582
  • Thick eyebrowHP:0000574

Occasional (29-5%)(19)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal palate morphologyHP:0000174
  • Abnormality of the dentitionHP:0000164
  • Avascular necrosis of the capital femoral epiphysisHP:0005743
  • Bilateral single transverse palmar creasesHP:0007598
  • BrachydactylyHP:0001156
  • Conductive hearing impairmentHP:0000405
  • Genu valgumHP:0002857
  • Growth delayHP:0001510
  • Hip dysplasiaHP:0001385
  • HypotoniaHP:0001252
  • MicrocephalyHP:0000252
  • Recurrent urinary tract infectionsHP:0000010
  • Supernumerary toothHP:0011069
  • TalipesHP:0001883
  • Thick nasal alaeHP:0009928
  • VentriculomegalyHP:0002119
  • Vesicoureteral refluxHP:0000076
  • Wide nasal bridgeHP:0000431