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Marshall-Smith syndrome

ORPHA:561 · Malformation syndrome · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(11)

  • Accelerated skeletal maturationHP:0005616
  • Anteverted naresHP:0000463
  • Bowing of the long bonesHP:0006487
  • Failure to thriveHP:0001508
  • Intellectual disabilityHP:0001249
  • Joint hypermobilityHP:0001382
  • Prominent foreheadHP:0011220
  • ProptosisHP:0000520
  • RetrognathiaHP:0000278
  • Slender long boneHP:0003100
  • Thin skinHP:0000963

Frequent (79-30%)(11)

  • Blue scleraeHP:0000592
  • Bruising susceptibilityHP:0000978
  • Conductive hearing impairmentHP:0000405
  • Generalized hirsutismHP:0002230
  • HypertelorismHP:0000316
  • Increased susceptibility to fracturesHP:0002659
  • Open mouthHP:0000194
  • Protruding tongueHP:0010808
  • Reduced bone mineral densityHP:0004349
  • ScoliosisHP:0002650
  • Short noseHP:0003196

Occasional (29-5%)(7)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Cerebellar hypoplasiaHP:0001321
  • Choanal atresiaHP:0000453
  • CraniosynostosisHP:0001363
  • Gingival overgrowthHP:0000212
  • Optic atrophyHP:0000648
  • VentriculomegalyHP:0002119