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Carey-Fineman-Ziter syndrome

ORPHA:1358 · Malformation syndrome · Disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(15)

  • Anteverted naresHP:0000463
  • Aplasia/Hypoplasia of the tongueHP:0010295
  • BrachydactylyHP:0001156
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Facial palsyHP:0010628
  • HypotoniaHP:0001252
  • Impaired ocular abductionHP:0000634
  • Long philtrumHP:0000343
  • MicrognathiaHP:0000347
  • Pierre-Robin sequenceHP:0000201
  • PtosisHP:0000508
  • Short noseHP:0003196
  • Skeletal muscle atrophyHP:0003202
  • Thin vermilion borderHP:0000233

Frequent (79-30%)(10)

  • Cleft palateHP:0000175
  • Cranial nerve paralysisHP:0006824
  • GlossoptosisHP:0000162
  • Growth delayHP:0001510
  • High palateHP:0000218
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Talipes equinovarusHP:0001762

Occasional (29-5%)(11)

  • Abnormality of the larynxHP:0001600
  • Aplasia of the pectoralis major muscleHP:0009751
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Cerebral calcificationHP:0002514
  • Glanular hypospadiasHP:0000807
  • HydronephrosisHP:0000126
  • Hypertensive crisisHP:0100735
  • Laryngeal stenosisHP:0001602
  • MyopathyHP:0003198
  • Ulnar deviation of fingerHP:0009465
  • VentriculomegalyHP:0002119