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Silver-Russell syndrome due to 7p11.2p13 microduplication

ORPHA:231137 · Etiological subtype · Subtype of disorder

HPO 表現型（共 29 項）

Frequent (79-30%)(12)

  • Blue scleraeHP:0000592
  • Clinodactyly of the 5th fingerHP:0004209
  • Delayed skeletal maturationHP:0002750
  • Downturned corners of mouthHP:0002714
  • Frontal bossingHP:0002007
  • Pointed chinHP:0000307
  • Postnatal growth retardationHP:0008897
  • Relative macrocephalyHP:0004482
  • Short chinHP:0000331
  • Short statureHP:0004322
  • Small for gestational ageHP:0001518
  • Thin upper lip vermilionHP:0000219

Occasional (29-5%)(17)

  • Borderline intellectual disabilityHP:0006889
  • Facial asymmetryHP:0000324
  • Feeding difficulties in infancyHP:0008872
  • Fine hairHP:0002213
  • Gastrostomy tube feeding in infancyHP:0011471
  • High anterior hairlineHP:0009890
  • HyperhidrosisHP:0000975
  • HypoglycemiaHP:0001943
  • Labial hypoplasiaHP:0000066
  • Long eyelashesHP:0000527
  • Mild global developmental delayHP:0011342
  • Narrow footHP:0001786
  • Narrow noseHP:0000460
  • Prominent fingertip padsHP:0001212
  • Short philtrumHP:0000322
  • Triangular faceHP:0000325
  • Upslanted palpebral fissureHP:0000582