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Acrodysostosis

ORPHA:950 · Malformation syndrome · Disorder

HPO 表現型（共 53 項）

Very frequent (99-80%)(19)

  • Abnormal metacarpal morphologyHP:0005916
  • Abnormal nail morphologyHP:0001597
  • Abnormal vertebral body morphologyHP:0003312
  • Accelerated skeletal maturationHP:0005616
  • BrachydactylyHP:0001156
  • Cone-shaped epiphysisHP:0010579
  • Depressed nasal bridgeHP:0005280
  • Depressed nasal ridgeHP:0000457
  • Epiphyseal stipplingHP:0010655
  • Hypoplasia of the maxillaHP:0000327
  • Intellectual disabilityHP:0001249
  • Midface retrusionHP:0011800
  • Open mouthHP:0000194
  • Short metacarpalHP:0010049
  • Short metatarsalHP:0010743
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Short toeHP:0001831
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(27)

  • Abnormal diaphysis morphologyHP:0000940
  • Abnormal female external genitalia morphologyHP:0000055
  • Abnormal femur morphologyHP:0002823
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal morphology of the radiusHP:0002818
  • Abnormal morphology of ulnaHP:0040071
  • Abnormality of immune system physiologyHP:0010978
  • Anteverted naresHP:0000463
  • Bowing of the long bonesHP:0006487
  • BrachycephalyHP:0000248
  • Cone-shaped metacarpal epiphysesHP:0006059
  • Coxa valgaHP:0002673
  • CryptorchidismHP:0000028
  • Delayed eruption of teethHP:0000684
  • Frontal bossingHP:0002007
  • Genu varumHP:0002970
  • Hearing impairmentHP:0000365
  • HypertelorismHP:0000316
  • Hypoplasia of the radiusHP:0002984
  • Hypoplasia of the ulnaHP:0003022
  • Joint dislocationHP:0001373
  • Mandibular prognathiaHP:0000303
  • MicromeliaHP:0002983
  • Peripheral neuropathyHP:0009830
  • Prominent foreheadHP:0011220
  • Spinal canal stenosisHP:0003416
  • TelecanthusHP:0000506

Occasional (29-5%)(7)

  • EpicanthusHP:0000286
  • Flat faceHP:0012368
  • HypogonadismHP:0000135
  • Irregular menstruationHP:0000858
  • Melanocytic nevusHP:0000995
  • Open biteHP:0010807
  • ScoliosisHP:0002650