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Craniolenticulosutural dysplasia

ORPHA:50814 · Malformation syndrome · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(26)

  • Brittle hairHP:0002299
  • Carious teethHP:0000670
  • Coarse hairHP:0002208
  • Decreased skull ossificationHP:0004331
  • Delayed eruption of teethHP:0000684
  • Frontal bossingHP:0002007
  • High iliac wingHP:0008808
  • HypertelorismHP:0000316
  • Hypoplasia of teethHP:0000685
  • Hypoplasia of the maxillaHP:0000327
  • Large fontanellesHP:0000239
  • Long philtrumHP:0000343
  • MicrodontiaHP:0000691
  • Posterior wedging of vertebral bodiesHP:0008444
  • Posterior Y-sutural cataractHP:0008031
  • Premature loss of teethHP:0006480
  • Prominent nasal bridgeHP:0000426
  • Prominent supraorbital ridgesHP:0000336
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Skeletal dysplasiaHP:0002652
  • Smooth philtrumHP:0000319
  • Sparse hairHP:0008070
  • Thin vermilion borderHP:0000233
  • Wide mouthHP:0000154
  • Wide noseHP:0000445

Frequent (79-30%)(5)

  • Abnormal skin pigmentationHP:0001000
  • Capillary hemangiomaHP:0005306
  • Hyperpigmentation of the skinHP:0000953
  • Narrow chestHP:0000774
  • Pes planusHP:0001763

Occasional (29-5%)(3)

  • Delayed speech and language developmentHP:0000750
  • High palateHP:0000218
  • Joint hypermobilityHP:0001382