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Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

ORPHA:171839 · Malformation syndrome · Disorder

HPO 表現型（共 41 項）

Very frequent (99-80%)(28)

  • BlepharophimosisHP:0000581
  • Bowing of the long bonesHP:0006487
  • BrachycephalyHP:0000248
  • Broad foreheadHP:0000337
  • Chiari malformationHP:0002308
  • CraniosynostosisHP:0001363
  • CryptorchidismHP:0000028
  • Depressed nasal bridgeHP:0005280
  • High foreheadHP:0000348
  • HydrocephalusHP:0000238
  • HypertelorismHP:0000316
  • Long philtrumHP:0000343
  • Low-set earsHP:0000369
  • Malar flatteningHP:0000272
  • MicropenisHP:0000054
  • MicrotiaHP:0008551
  • Moderate intellectual disabilityHP:0002342
  • Pectus carinatumHP:0000768
  • Radioulnar synostosisHP:0002974
  • Renal agenesisHP:0000104
  • Renal hypoplasiaHP:0000089
  • SeizureHP:0001250
  • Short columellaHP:0002000
  • Short noseHP:0003196
  • Short palmHP:0004279
  • Thin vermilion borderHP:0000233
  • TurricephalyHP:0000262
  • Wide intermamillary distanceHP:0006610

Frequent (79-30%)(13)

  • Abnormal septum pellucidum morphologyHP:0007375
  • Anteverted naresHP:0000463
  • Cerebral atrophyHP:0002059
  • HypertoniaHP:0001276
  • HypospadiasHP:0000047
  • Large fontanellesHP:0000239
  • LaryngomalaciaHP:0001601
  • MicrognathiaHP:0000347
  • ObesityHP:0001513
  • Patent ductus arteriosusHP:0001643
  • Spastic tetraparesisHP:0001285
  • Toe syndactylyHP:0001770
  • Umbilical herniaHP:0001537