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3M syndrome

ORPHA:2616 · Malformation syndrome · Disorder

HPO 表現型（共 42 項）

Very frequent (99-80%)(20)

  • Abnormal metaphysis morphologyHP:0000944
  • Anteverted naresHP:0000463
  • Broad foreheadHP:0000337
  • Bulbous noseHP:0000414
  • Delayed skeletal maturationHP:0002750
  • Everted lower lip vermilionHP:0000232
  • Frontal bossingHP:0002007
  • Hypoplastic ischiaHP:0003175
  • Hypoplastic pelvisHP:0008839
  • Hypoplastic pubic boneHP:0003173
  • Increased vertebral heightHP:0004570
  • Intrauterine growth retardationHP:0001511
  • Midface retrusionHP:0011800
  • Rocker bottom footHP:0001838
  • Scapular wingingHP:0003691
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Slender long boneHP:0003100
  • Thick eyebrowHP:0000574
  • Triangular faceHP:0000325

Frequent (79-30%)(15)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormality of the elbowHP:0009811
  • Delayed eruption of teethHP:0000684
  • DolichocephalyHP:0000268
  • Enlarged thoraxHP:0100625
  • Horizontal ribsHP:0000888
  • HyperlordosisHP:0003307
  • Hypoplasia of the ulnaHP:0003022
  • Joint hypermobilityHP:0001382
  • Long philtrumHP:0000343
  • MicromeliaHP:0002983
  • Pointed chinHP:0000307
  • Protruding earHP:0000411
  • Short thoraxHP:0010306
  • Thin ribsHP:0000883

Occasional (29-5%)(7)

  • Abnormal cerebral vascular morphologyHP:0100659
  • Clinodactyly of the 5th fingerHP:0004209
  • Congenital hip dislocationHP:0001374
  • Decreased fertilityHP:0000144
  • HypospadiasHP:0000047
  • KyphosisHP:0002808
  • ScoliosisHP:0002650