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Cartilage-hair hypoplasia

ORPHA:175 · Disease · Disorder

HPO 表現型（共 79 項）

Very frequent (99-80%)(43)

  • Abnormal bone ossificationHP:0011849
  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormal diaphysis morphologyHP:0000940
  • Abnormal distal phalanx morphology of fingerHP:0009832
  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal retinal pigmentationHP:0007703
  • Abnormal vertebral body morphologyHP:0003312
  • Abnormality of the pancreasHP:0001732
  • Abnormally ossified vertebraeHP:0100569
  • Biconvex vertebral bodiesHP:0004625
  • Blue scleraeHP:0000592
  • Bowing of the long bonesHP:0006487
  • CardiomyopathyHP:0001638
  • Convex nasal ridgeHP:0000444
  • Decreased total neutrophil countHP:0001875
  • Diaphyseal undertubulationHP:0005019
  • Disproportionate short-limb short statureHP:0008873
  • EEG abnormalityHP:0002353
  • Failure to thriveHP:0001508
  • High hypermetropiaHP:0008499
  • HyperlordosisHP:0003307
  • HypocalcemiaHP:0002901
  • HypotoniaHP:0001252
  • Large faceHP:0100729
  • Limited elbow extensionHP:0001377
  • MesomeliaHP:0003027
  • Metaphyseal chondrodysplasiaHP:0005871
  • Metaphyseal dysplasiaHP:0100255
  • MicromeliaHP:0002983
  • Respiratory insufficiencyHP:0002093
  • RhizomeliaHP:0008905
  • ScoliosisHP:0002650
  • Short neckHP:0000470
  • Short palmHP:0004279
  • Skeletal dysplasiaHP:0002652
  • Sparse eyebrowHP:0045075
  • Sparse hairHP:0008070
  • Spinal dysraphismHP:0010301
  • StrabismusHP:0000486
  • Tibial bowingHP:0002982
  • Tracheal stenosisHP:0002777
  • Visual impairmentHP:0000505

Frequent (79-30%)(12)

  • Abnormal hip bone morphologyHP:0003272
  • Abnormal palate morphologyHP:0000174
  • Depressed nasal bridgeHP:0005280
  • Diminished deep tendon reflexHP:0001315
  • Flaring of lower rib cageHP:0006589
  • Gingival overgrowthHP:0000212
  • MalabsorptionHP:0002024
  • MucopolysacchariduriaHP:0008155
  • MyopiaHP:0000545
  • Narrow chestHP:0000774
  • Posteriorly rotated earsHP:0000358
  • Prominent foreheadHP:0011220

Occasional (29-5%)(24)

  • Abnormal pelvic girdle bone morphologyHP:0002644
  • Abnormal rib morphologyHP:0000772
  • Abnormality of chromosome stabilityHP:0003220
  • Accelerated skeletal maturationHP:0005616
  • Aganglionic megacolonHP:0002251
  • AnemiaHP:0001903
  • Anteverted naresHP:0000463
  • Aplasia/Hypoplasia affecting the eyeHP:0008056
  • Aplasia/Hypoplasia of the abdominal wall musculatureHP:0010318
  • BrachycephalyHP:0000248
  • Cognitive impairmentHP:0100543
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Delayed skeletal maturationHP:0002750
  • Depressed nasal ridgeHP:0000457
  • EpicanthusHP:0000286
  • Heart blockHP:0012722
  • HepatomegalyHP:0002240
  • Joint hypermobilityHP:0001382
  • MacrotiaHP:0000400
  • Pectus carinatumHP:0000768
  • Sacral dimpleHP:0000960
  • Short thoraxHP:0010306
  • Small handHP:0200055
  • Wide nasal bridgeHP:0000431