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Gorlin syndrome

ORPHA:377 · Malformation syndrome · Disorder

HPO 表現型（共 45 項）

Very frequent (99-80%)(5)

  • Cerebral calcificationHP:0002514
  • Melanocytic nevusHP:0000995
  • NeoplasmHP:0002664
  • Palmar pitsHP:0010610
  • Plantar pitsHP:0010612

Frequent (79-30%)(14)

  • Abnormal rib morphologyHP:0000772
  • Abnormality of the neckHP:0000464
  • Anterior rib cuppingHP:0000907
  • Basal cell carcinomaHP:0002671
  • Bifid ribsHP:0000892
  • BrachydactylyHP:0001156
  • Calcification of falx cerebriHP:0005462
  • MacrocephalyHP:0000256
  • Odontogenic keratocysts of the jawHP:0010603
  • Rib fusionHP:0000902
  • ScoliosisHP:0002650
  • Vertebral fusionHP:0002948
  • Vertebral wedgingHP:0008422
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(24)

  • Abnormal vertebral morphologyHP:0003468
  • Abnormality of the sense of smellHP:0004408
  • ArachnodactylyHP:0001166
  • BrachycephalyHP:0000248
  • Bridged sella turcicaHP:0005449
  • Carious teethHP:0000670
  • CataractHP:0000518
  • Coarse facial featuresHP:0000280
  • CryptorchidismHP:0000028
  • EpicanthusHP:0000286
  • Frontal bossingHP:0002007
  • GlaucomaHP:0000501
  • HemivertebraeHP:0002937
  • HydrocephalusHP:0000238
  • HypertelorismHP:0000316
  • Hypogonadotropic hypogonadismHP:0000044
  • Intellectual disabilityHP:0001249
  • Iris colobomaHP:0000612
  • Mandibular prognathiaHP:0000303
  • MeningiomaHP:0002858
  • Orofacial cleftHP:0000202
  • Ovarian fibromaHP:0010618
  • StrabismusHP:0000486
  • TelecanthusHP:0000506

Very rare (<4-1%)(2)

  • Cardiac fibromaHP:0010617
  • MedulloblastomaHP:0002885