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Laurin-Sandrow syndrome

ORPHA:2378 · Malformation syndrome · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(9)

  • Abnormal metacarpal morphologyHP:0005916
  • Aplasia/Hypoplasia of the thumbHP:0009601
  • Finger syndactylyHP:0006101
  • Mirror image polydactylyHP:0010689
  • Preaxial foot polydactylyHP:0001841
  • Preaxial hand polydactylyHP:0001177
  • Tarsal synostosisHP:0008368
  • Toe syndactylyHP:0001770
  • Triphalangeal thumbHP:0001199

Frequent (79-30%)(12)

  • Abnormality of the noseHP:0000366
  • Abnormality of the wristHP:0003019
  • Absent radiusHP:0003974
  • Absent tibiaHP:0009556
  • Depressed nasal ridgeHP:0000457
  • Fibular duplicationHP:0010503
  • Limb duplicationHP:0100524
  • Limitation of joint mobilityHP:0001376
  • Prominent noseHP:0000448
  • Short columellaHP:0002000
  • TalipesHP:0001883
  • Underdeveloped nasal alaeHP:0000430

Occasional (29-5%)(7)

  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • CryptorchidismHP:0000028
  • Downturned corners of mouthHP:0002714
  • HydrocephalusHP:0000238
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249