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Osteoglosphonic dysplasia

ORPHA:2645 · Malformation syndrome · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(6)

  • Abnormal vertebral body morphologyHP:0003312
  • CraniosynostosisHP:0001363
  • HypertelorismHP:0000316
  • Multiple unerupted teethHP:0006283
  • Severe short statureHP:0003510
  • Tooth agenesisHP:0009804

Frequent (79-30%)(7)

  • Abnormal clavicle morphologyHP:0000889
  • Anteverted naresHP:0000463
  • Delayed skeletal maturationHP:0002750
  • Failure to thrive in infancyHP:0001531
  • MicrognathiaHP:0000347
  • Protruding earHP:0000411
  • RhizomeliaHP:0008905

Occasional (29-5%)(7)

  • Abnormal bone ossificationHP:0011849
  • BrachydactylyHP:0001156
  • Choanal atresiaHP:0000453
  • CryptorchidismHP:0000028
  • Inguinal herniaHP:0000023
  • Intellectual disabilityHP:0001249
  • ScoliosisHP:0002650