← 返回搜尋

Antley-Bixler syndrome

ORPHA:83 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(16)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal rib morphologyHP:0000772
  • Anteverted naresHP:0000463
  • ArachnodactylyHP:0001166
  • BrachycephalyHP:0000248
  • Camptodactyly of fingerHP:0100490
  • Delayed cranial suture closureHP:0000270
  • Elbow ankylosisHP:0003070
  • Femoral bowingHP:0002980
  • Frontal bossingHP:0002007
  • Hypoplasia of the zygomatic boneHP:0010669
  • Joint stiffnessHP:0001387
  • Narrow chestHP:0000774
  • Narrow pelvis boneHP:0003275
  • Posteriorly rotated earsHP:0000358
  • Short noseHP:0003196

Frequent (79-30%)(4)

  • Abnormal renal morphologyHP:0012210
  • Choanal atresiaHP:0000453
  • CraniosynostosisHP:0001363
  • ProptosisHP:0000520

Occasional (29-5%)(10)

  • Cleft palateHP:0000175
  • Downslanted palpebral fissuresHP:0000494
  • HypertelorismHP:0000316
  • Long philtrumHP:0000343
  • Narrow mouthHP:0000160
  • Recurrent fracturesHP:0002757
  • StrabismusHP:0000486
  • TalipesHP:0001883
  • TurricephalyHP:0000262
  • Underdeveloped supraorbital ridgesHP:0009891