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Pycnodysostosis

ORPHA:763 · Disease · Disorder

HPO 表現型（共 66 項）

Very frequent (99-80%)(9)

  • BrachydactylyHP:0001156
  • Decreased circulating insulin-like growth factor 1 concentrationHP:0030353
  • Delayed pneumatization of the mastoid processHP:0005906
  • Disproportionate short-limb short statureHP:0008873
  • Frontal bossingHP:0002007
  • Increased bone mineral densityHP:0011001
  • Obtuse angle of mandibleHP:0005446
  • Osteolytic defects of the distal phalanges of the handHP:0009839
  • Persistent open anterior fontanelleHP:0004474

Frequent (79-30%)(20)

  • Abnormal nail morphologyHP:0001597
  • Abnormality of the dentitionHP:0000164
  • Blue scleraeHP:0000592
  • Chronic painHP:0012532
  • Convex nasal ridgeHP:0000444
  • Decreased response to growth hormone stimulation testHP:0000824
  • Delayed cranial suture closureHP:0000270
  • Generalized osteosclerosisHP:0005789
  • Hypoplasia of the maxillaHP:0000327
  • Increased susceptibility to fracturesHP:0002659
  • Intrauterine growth retardationHP:0001511
  • MicrognathiaHP:0000347
  • Midface retrusionHP:0011800
  • Mild conductive hearing impairmentHP:0008598
  • Obstructive sleep apneaHP:0002870
  • Prominent noseHP:0000448
  • ProptosisHP:0000520
  • Short fingerHP:0009381
  • Short footHP:0001773
  • Small handHP:0200055

Occasional (29-5%)(24)

  • Abnormal clavicle morphologyHP:0000889
  • AcromeliaHP:0010884
  • Carious teethHP:0000670
  • Delayed eruption of permanent teethHP:0000696
  • Delayed eruption of primary teethHP:0000680
  • Dental malocclusionHP:0000689
  • Enamel hypoplasiaHP:0006297
  • High palateHP:0000218
  • HypodontiaHP:0000668
  • Hypoplastic iliac wingHP:0002866
  • LaryngomalaciaHP:0001601
  • Lower limb asymmetryHP:0100559
  • MesomeliaHP:0003027
  • Mild global developmental delayHP:0011342
  • Nail dysplasiaHP:0002164
  • OverweightHP:0025502
  • Persistence of primary teethHP:0006335
  • RhizomeliaHP:0008905
  • Ridged nailHP:0001807
  • ScoliosisHP:0002650
  • SpondylolisthesisHP:0003302
  • SpondylolysisHP:0003304
  • StridorHP:0010307
  • Wormian bonesHP:0002645

Very rare (<4-1%)(13)

  • Abnormality of refractionHP:0000539
  • Abnormality of the nervous systemHP:0000707
  • Cerebral dysmyelinationHP:0007266
  • Chiari malformationHP:0002308
  • Coronal craniosynostosisHP:0004440
  • HepatosplenomegalyHP:0001433
  • HyperlordosisHP:0003307
  • Increased intracranial pressureHP:0002516
  • Joint hypermobilityHP:0001382
  • KyphosisHP:0002808
  • Narrow chestHP:0000774
  • StrabismusHP:0000486
  • Upper motor neuron dysfunctionHP:0002493