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Isolated fibular hemimelia

ORPHA:93323 · Morphological anomaly · Disorder

HPO 表現型（共 47 項）

Very frequent (99-80%)(2)

  • Abnormal fibula morphologyHP:0002991
  • Gait disturbanceHP:0001288

Frequent (79-30%)(8)

  • Abnormal lower limb bone morphologyHP:0040069
  • Disproportionate prominence of the femoral medial condyleHP:0006437
  • Genu valgumHP:0002857
  • Limb undergrowthHP:0009826
  • Lower limb asymmetryHP:0100559
  • Short tibiaHP:0005736
  • Talipes equinovarusHP:0001762
  • Tibial bowingHP:0002982

Occasional (29-5%)(22)

  • Abnormal bone ossificationHP:0011849
  • Ankle hypermobilityHP:0006460
  • Arthralgia of the hipHP:0003365
  • Bowing of the legsHP:0002979
  • Decreased hip abductionHP:0003184
  • Fibular hypoplasiaHP:0003038
  • Finger syndactylyHP:0006101
  • Hip subluxationHP:0030043
  • Impairment of activities of daily livingHP:0031058
  • Joint hypermobilityHP:0001382
  • Joint stiffnessHP:0001387
  • Knee joint hypermobilityHP:0045086
  • Limitation of joint mobilityHP:0001376
  • Limited knee flexion/extensionHP:0005085
  • OligodactylyHP:0012165
  • PainHP:0012531
  • Proximal femoral focal deficiencyHP:0030772
  • Short femurHP:0003097
  • Short toeHP:0001831
  • Structural foot deformityHP:0010219
  • Talipes equinovalgusHP:0001772
  • Toe syndactylyHP:0001770

Very rare (<4-1%)(15)

  • Abnormal anterior chamber morphologyHP:0000593
  • Abnormal heart morphologyHP:0001627
  • Abnormal morphology of ulnaHP:0040071
  • Abnormality of the eyeHP:0000478
  • AnophthalmiaHP:0000528
  • CraniosynostosisHP:0001363
  • EctrodactylyHP:0100257
  • Fibular aplasiaHP:0002990
  • Foot oligodactylyHP:0001849
  • Hypoplastic acetabulaeHP:0003274
  • Intellectual disabilityHP:0001249
  • Renal dysplasiaHP:0000110
  • Spina bifidaHP:0002414
  • Thoracoabdominal wall defectHP:0100656
  • ThrombocytopeniaHP:0001873