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Frontometaphyseal dysplasia

ORPHA:1826 · Disease · Disorder

HPO 表現型（共 62 項）

Very frequent (99-80%)(13)

  • Abnormal facial shapeHP:0001999
  • Broad thumbHP:0011304
  • Downslanted palpebral fissuresHP:0000494
  • Hearing impairmentHP:0000365
  • HypertelorismHP:0000316
  • Joint contracture of the handHP:0009473
  • Long fingersHP:0100807
  • MicrognathiaHP:0000347
  • Prominent supraorbital ridgesHP:0000336
  • ScoliosisHP:0002650
  • Short phalanx of fingerHP:0009803
  • Skeletal dysplasiaHP:0002652
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(30)

  • Abnormal heart morphologyHP:0001627
  • Camptodactyly of fingerHP:0100490
  • Coarse facial featuresHP:0000280
  • Conductive hearing impairmentHP:0000405
  • Dislocated radial headHP:0003083
  • Elbow flexion contractureHP:0002987
  • Full cheeksHP:0000293
  • Fused cervical vertebraeHP:0002949
  • HydronephrosisHP:0000126
  • Interphalangeal joint contracture of fingerHP:0001220
  • KeloidsHP:0010562
  • Limitation of knee mobilityHP:0010501
  • Limitation of movement at anklesHP:0010505
  • Limited elbow movementHP:0002996
  • Limited wrist movementHP:0006248
  • Metacarpophalangeal joint contractureHP:0006070
  • Metaphyseal wideningHP:0003016
  • Pes valgusHP:0008081
  • Sclerosis of skull baseHP:0002694
  • Sensorineural hearing impairmentHP:0000407
  • Short diaphysesHP:0000941
  • Short distal phalanx of fingerHP:0009882
  • Short distal phalanx of the thumbHP:0009650
  • Short metacarpalHP:0010049
  • Short metatarsalHP:0010743
  • Subglottic stenosisHP:0001607
  • Ulnar deviation of the handHP:0009487
  • Ureteral obstructionHP:0006000
  • Urethral stenosisHP:0008661
  • Wrist flexion contractureHP:0001239

Occasional (29-5%)(19)

  • Abnormal cornea morphologyHP:0000481
  • AmblyopiaHP:0000646
  • AstigmatismHP:0000483
  • Bifid uvulaHP:0000193
  • Chiari malformationHP:0002308
  • Cleft palateHP:0000175
  • CraniosynostosisHP:0001363
  • Growth delayHP:0001510
  • Hypoplasia of the musculatureHP:0009004
  • Hypotrophy of the small hand musclesHP:0006006
  • Intellectual disabilityHP:0001249
  • Mixed hearing impairmentHP:0000410
  • OligodontiaHP:0000677
  • Pes cavusHP:0001761
  • Progressive bowing of long bonesHP:0006383
  • Shoulder muscle hypoplasiaHP:0008952
  • Single transverse palmar creaseHP:0000954
  • Spina bifida occultaHP:0003298
  • Sprengel anomalyHP:0000912