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Lateral meningocele syndrome

ORPHA:2789 · Malformation syndrome · Disorder

HPO 表現型（共 41 項）

Very frequent (99-80%)(14)

  • Atresia of the external auditory canalHP:0000413
  • Conductive hearing impairmentHP:0000405
  • DolichocephalyHP:0000268
  • Downslanted palpebral fissuresHP:0000494
  • Dural ectasiaHP:0100775
  • High, narrow palateHP:0002705
  • Low-set earsHP:0000369
  • Malar flatteningHP:0000272
  • MeningoceleHP:0002435
  • MicrognathiaHP:0000347
  • Narrow faceHP:0000275
  • Posteriorly rotated earsHP:0000358
  • PtosisHP:0000508
  • Wormian bonesHP:0002645

Frequent (79-30%)(13)

  • Abnormal vertebral body morphologyHP:0003312
  • Abnormality of the middle ear ossiclesHP:0004452
  • Craniofacial hyperostosisHP:0004493
  • Dental crowdingHP:0000678
  • Inguinal herniaHP:0000023
  • Joint hypermobilityHP:0001382
  • Low posterior hairlineHP:0002162
  • Pectus excavatumHP:0000767
  • Prominent metopic ridgeHP:0005487
  • ScoliosisHP:0002650
  • Short neckHP:0000470
  • Smooth philtrumHP:0000319
  • Umbilical herniaHP:0001537

Occasional (29-5%)(14)

  • Chiari malformationHP:0002308
  • CryptorchidismHP:0000028
  • EpicanthusHP:0000286
  • Global developmental delayHP:0001263
  • High palateHP:0000218
  • HyperlordosisHP:0003307
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Iris colobomaHP:0000612
  • KyphosisHP:0002808
  • ProptosisHP:0000520
  • Sensorineural hearing impairmentHP:0000407
  • SyringomyeliaHP:0003396
  • Ventricular septal defectHP:0001629