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Hajdu-Cheney syndrome

ORPHA:955 · Malformation syndrome · Disorder

HPO 表現型（共 86 項）

Very frequent (99-80%)(18)

  • Abnormal facial shapeHP:0001999
  • Abnormal skull morphologyHP:0000929
  • BrachydactylyHP:0001156
  • Decreased skull ossificationHP:0004331
  • Downslanted palpebral fissuresHP:0000494
  • HypertelorismHP:0000316
  • Long philtrumHP:0000343
  • MicrognathiaHP:0000347
  • OsteolysisHP:0002797
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • Partial absence of toeHP:0011305
  • PeriodontitisHP:0000704
  • Short distal phalanx of fingerHP:0009882
  • Short statureHP:0004322
  • Short toeHP:0001831
  • Skeletal dysplasiaHP:0002652
  • Thick eyebrowHP:0000574

Frequent (79-30%)(29)

  • Abnormal fingernail morphologyHP:0001231
  • Abnormal mandible morphologyHP:0000277
  • Abnormality of the dentitionHP:0000164
  • Absent frontal sinusesHP:0002688
  • Anteverted naresHP:0000463
  • ArthralgiaHP:0002829
  • Biconcave vertebral bodiesHP:0004586
  • Bone painHP:0002653
  • Chiari malformationHP:0002308
  • Coarse facial featuresHP:0000280
  • DolichocephalyHP:0000268
  • Downturned corners of mouthHP:0002714
  • Full cheeksHP:0000293
  • Generalized hirsutismHP:0002230
  • Hearing impairmentHP:0000365
  • Hypoplastic 5th lumbar vertebraeHP:0008424
  • Joint hypermobilityHP:0001382
  • MacrocephalyHP:0000256
  • Narrow mouthHP:0000160
  • Open biteHP:0010807
  • PlatybasiaHP:0002691
  • Prominent occiputHP:0000269
  • Recurrent fracturesHP:0002757
  • ScoliosisHP:0002650
  • Short neckHP:0000470
  • TelecanthusHP:0000506
  • Thin vermilion borderHP:0000233
  • Wide noseHP:0000445
  • Wormian bonesHP:0002645

Occasional (29-5%)(39)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormality of the voiceHP:0001608
  • Aortic valve stenosisHP:0001650
  • Bowing of the long bonesHP:0006487
  • CataractHP:0000518
  • Cleft palateHP:0000175
  • Coarse hairHP:0002208
  • Coarse metaphyseal trabecularizationHP:0100670
  • Delayed pubertyHP:0000823
  • Dry skinHP:0000958
  • Failure to thriveHP:0001508
  • HeadacheHP:0002315
  • HepatomegalyHP:0002240
  • HerniaHP:0100790
  • HydrocephalusHP:0000238
  • Hypoplasia of the zygomatic boneHP:0010669
  • HypospadiasHP:0000047
  • Inguinal herniaHP:0000023
  • Intestinal malrotationHP:0002566
  • Iris colobomaHP:0000612
  • KyphosisHP:0002808
  • Low anterior hairlineHP:0000294
  • Low-set earsHP:0000369
  • Mitral stenosisHP:0001718
  • Multiple renal cystsHP:0005562
  • MyopiaHP:0000545
  • Patellar dislocationHP:0002999
  • Patent ductus arteriosusHP:0001643
  • Pectus carinatumHP:0000768
  • Peripheral neuropathyHP:0009830
  • Recurrent respiratory infectionsHP:0002205
  • Skin ulcerHP:0200042
  • SplenomegalyHP:0001744
  • SynophrysHP:0000664
  • SyringomyeliaHP:0003396
  • Thickened skinHP:0001072
  • Umbilical herniaHP:0001537
  • Ventricular septal defectHP:0001629
  • Wide nasal bridgeHP:0000431