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Richieri Costa-da Silva syndrome

ORPHA:3101 · Malformation syndrome · Disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(8)

  • Generalized bone demineralizationHP:0006462
  • Handgrip myotoniaHP:0012899
  • Intermittent painful muscle spasmsHP:0011964
  • KyphoscoliosisHP:0002751
  • Myotonia of the upper limbHP:0012903
  • Pectus carinatumHP:0000768
  • Profound intellectual disabilityHP:0002187
  • Short statureHP:0004322

Frequent (79-30%)(8)

  • Decreased anterioposterior diameter of lumbar vertebral bodiesHP:0005638
  • Distal lower limb muscle weaknessHP:0009053
  • DysphagiaHP:0002015
  • EMG: myokymic dischargesHP:0100288
  • FallsHP:0002527
  • Skeletal muscle hypertrophyHP:0003712
  • Vertebral wedgingHP:0008422
  • Weak voiceHP:0001621

Occasional (29-5%)(9)

  • AreflexiaHP:0001284
  • Asymmetric limb muscle stiffnessHP:0007156
  • Beaking of vertebral bodiesHP:0004568
  • Decreased muscle massHP:0003199
  • EsotropiaHP:0000565
  • Genu valgumHP:0002857
  • HyporeflexiaHP:0001265
  • Inability to walkHP:0002540
  • Metatarsus adductusHP:0001840

Excluded (0%)(11)

  • Abnormality of the dentitionHP:0000164
  • Abnormally high-pitched voiceHP:0001620
  • BlepharophimosisHP:0000581
  • Diastasis rectiHP:0001540
  • Flat faceHP:0012368
  • Joint dislocationHP:0001373
  • Limitation of joint mobilityHP:0001376
  • Low anterior hairlineHP:0000294
  • Low-set earsHP:0000369
  • Narrow mouthHP:0000160
  • Short neckHP:0000470