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McDonough syndrome

ORPHA:2471 · Malformation syndrome · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(13)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Aplasia/Hypoplasia of the abdominal wall musculatureHP:0010318
  • Intellectual disabilityHP:0001249
  • KyphosisHP:0002808
  • MacrotiaHP:0000400
  • Open biteHP:0010807
  • Prominent noseHP:0000448
  • Prominent supraorbital ridgesHP:0000336
  • Protruding earHP:0000411
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • StrabismusHP:0000486
  • SynophrysHP:0000664

Frequent (79-30%)(14)

  • Abnormal palate morphologyHP:0000174
  • Bilateral single transverse palmar creasesHP:0007598
  • CachexiaHP:0004326
  • CryptorchidismHP:0000028
  • Dental malocclusionHP:0000689
  • HypertelorismHP:0000316
  • Mandibular prognathiaHP:0000303
  • MicrognathiaHP:0000347
  • Pectus excavatumHP:0000767
  • Posteriorly rotated earsHP:0000358
  • PtosisHP:0000508
  • Short palpebral fissureHP:0012745
  • Short philtrumHP:0000322
  • Underdeveloped nasal alaeHP:0000430