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Achondrogenesis type 1A

ORPHA:93299 · Clinical subtype · Subtype of disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(18)

  • Abdominal distentionHP:0003270
  • Abnormal enchondral ossificationHP:0003336
  • Anteverted naresHP:0000463
  • Aplasia/Hypoplasia of the lungsHP:0006703
  • Flat faceHP:0012368
  • Frontal bossingHP:0002007
  • Hydrops fetalisHP:0001789
  • Lethal skeletal dysplasiaHP:0005716
  • Long philtrumHP:0000343
  • MacrocephalyHP:0000256
  • MicrognathiaHP:0000347
  • MicromeliaHP:0002983
  • Narrow chestHP:0000774
  • Severe short statureHP:0003510
  • Short neckHP:0000470
  • Short noseHP:0003196
  • Short thoraxHP:0010306
  • Thickened nuchal skin foldHP:0000474

Frequent (79-30%)(7)

  • Femoral herniaHP:0100541
  • Multiple rib fracturesHP:0006640
  • PolyhydramniosHP:0001561
  • Recurrent fracturesHP:0002757
  • Short footHP:0001773
  • Short palmHP:0004279
  • Umbilical herniaHP:0001537

Occasional (29-5%)(2)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Cystic hygromaHP:0000476