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Cerebrocostomandibular syndrome

ORPHA:1393 · Malformation syndrome · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(5)

  • Bell-shaped thoraxHP:0001591
  • Cleft palateHP:0000175
  • MicrognathiaHP:0000347
  • Neonatal respiratory distressHP:0002643
  • Posterior rib gapHP:0030282

Frequent (79-30%)(10)

  • Atresia of the external auditory canalHP:0000413
  • Conductive hearing impairmentHP:0000405
  • Death in infancyHP:0001522
  • Feeding difficultiesHP:0011968
  • GlossoptosisHP:0000162
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • KyphosisHP:0002808
  • Short statureHP:0004322
  • TracheomalaciaHP:0002779

Occasional (29-5%)(12)

  • Cerebral calcificationHP:0002514
  • Clinodactyly of the 5th fingerHP:0004209
  • HydranencephalyHP:0002324
  • MeningoceleHP:0002435
  • MicrocephalyHP:0000252
  • Multicystic kidney dysplasiaHP:0000003
  • MyelomeningoceleHP:0002475
  • Porencephalic cystHP:0002132
  • Short hard palateHP:0010290
  • Spina bifidaHP:0002414
  • Ventricular septal defectHP:0001629
  • Webbed neckHP:0000465