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Diastrophic dysplasia

ORPHA:628 · Disease · Disorder

HPO 表現型（共 64 項）

Very frequent (99-80%)(21)

  • Abnormal clavicle morphologyHP:0000889
  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal metacarpal morphologyHP:0005916
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal rib morphologyHP:0000772
  • Abnormal vertebral body morphologyHP:0003312
  • Bowing of the long bonesHP:0006487
  • Depressed nasal bridgeHP:0005280
  • Hypoplastic cervical vertebraeHP:0008434
  • Increased bone mineral densityHP:0011001
  • Intrauterine growth retardationHP:0001511
  • Large earlobeHP:0009748
  • MacrocephalyHP:0000256
  • MicromeliaHP:0002983
  • Midface retrusionHP:0011800
  • Neonatal short-limb short statureHP:0008921
  • Proximal placement of thumbHP:0009623
  • ScoliosisHP:0002650
  • Short fingerHP:0009381
  • Short statureHP:0004322
  • Symphalangism affecting the phalanges of the handHP:0009773

Frequent (79-30%)(24)

  • Blue scleraeHP:0000592
  • Camptodactyly of fingerHP:0100490
  • Cervical kyphosisHP:0002947
  • Cervical spina bifidaHP:0005857
  • Cleft palateHP:0000175
  • Full cheeksHP:0000293
  • Genu valgumHP:0002857
  • Hip dysplasiaHP:0001385
  • Hitchhiker thumbHP:0001234
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Joint contractureHP:0034392
  • Joint dislocationHP:0001373
  • Joint stiffnessHP:0001387
  • KyphosisHP:0002808
  • Lumbar hyperlordosisHP:0002938
  • Overfolded helixHP:0000396
  • Posteriorly rotated earsHP:0000358
  • Recurrent respiratory infectionsHP:0002205
  • Sandal gapHP:0001852
  • Talipes equinovarusHP:0001762
  • Thoracolumbar kyphosisHP:0005619
  • Ulnar deviation of fingerHP:0009465
  • Underdeveloped nasal alaeHP:0000430

Occasional (29-5%)(19)

  • Airway obstructionHP:0006536
  • BrachydactylyHP:0001156
  • Broad foreheadHP:0000337
  • Cerebral calcificationHP:0002514
  • Clinodactyly of the 5th fingerHP:0004209
  • CryptorchidismHP:0000028
  • Downslanted palpebral fissuresHP:0000494
  • Elbow dislocationHP:0003042
  • Hearing impairmentHP:0000365
  • High anterior hairlineHP:0009890
  • Hyperextensible skinHP:0000974
  • Joint hypermobilityHP:0001382
  • MicrognathiaHP:0000347
  • Narrow mouthHP:0000160
  • Narrow noseHP:0000460
  • Respiratory insufficiencyHP:0002093
  • Spinal cord compressionHP:0002176
  • Stenosis of the external auditory canalHP:0000402
  • Visceral angiomatosisHP:0100761