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Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

ORPHA:457359 · Malformation syndrome · Disorder

HPO 表現型（共 54 項）

Very frequent (99-80%)(9)

  • ArachnodactylyHP:0001166
  • Broad eyebrowHP:0011229
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Long faceHP:0000276
  • OvergrowthHP:0001548
  • Prominent foreheadHP:0011220
  • Severe intellectual disabilityHP:0010864
  • Sparse eyebrowHP:0045075

Frequent (79-30%)(21)

  • Abnormal facial shapeHP:0001999
  • Absent speechHP:0001344
  • Bilateral tonic-clonic seizureHP:0002069
  • Disproportionate tall statureHP:0001519
  • Downslanted palpebral fissuresHP:0000494
  • DroolingHP:0002307
  • Gait ataxiaHP:0002066
  • Gait disturbanceHP:0001288
  • Global developmental delayHP:0001263
  • High palateHP:0000218
  • KyphoscoliosisHP:0002751
  • Large for gestational ageHP:0001520
  • Long footHP:0001833
  • MacrocephalyHP:0000256
  • MacrotiaHP:0000400
  • Mandibular prognathiaHP:0000303
  • MegalencephalyHP:0001355
  • Posteriorly rotated earsHP:0000358
  • ProptosisHP:0000520
  • Slender buildHP:0001533
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(24)

  • Asymmetry of the thoraxHP:0001555
  • Cerebellar hypoplasiaHP:0001321
  • Cerebral cortical atrophyHP:0002120
  • Communicating hydrocephalusHP:0001334
  • Diffuse white matter abnormalitiesHP:0007204
  • Facial hypotoniaHP:0000297
  • High myopiaHP:0011003
  • Joint hypermobilityHP:0001382
  • KyphosisHP:0002808
  • Limitation of joint mobilityHP:0001376
  • Long neckHP:0000472
  • Lumbar hyperlordosisHP:0002938
  • Malar flatteningHP:0000272
  • Metopic synostosisHP:0011330
  • MicropenisHP:0000054
  • Neonatal hypoglycemiaHP:0001998
  • Pes planusHP:0001763
  • Prominent nasal bridgeHP:0000426
  • Reduced social responsivenessHP:0012760
  • Severe expressive language delayHP:0006863
  • Shallow orbitsHP:0000586
  • Thick corpus callosumHP:0007074
  • Triangular faceHP:0000325
  • VentriculomegalyHP:0002119