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Megalencephaly-capillary malformation-polymicrogyria syndrome

ORPHA:60040 · Malformation syndrome · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(12)

  • Arteriovenous malformationHP:0100026
  • Asymmetric growthHP:0100555
  • Facial asymmetryHP:0000324
  • Finger syndactylyHP:0006101
  • Foot polydactylyHP:0001829
  • Hand polydactylyHP:0001161
  • MacrocephalyHP:0000256
  • Nevus flammeusHP:0001052
  • Telangiectasia of the skinHP:0100585
  • Toe syndactylyHP:0001770
  • Visceral angiomatosisHP:0100761
  • Wide mouthHP:0000154

Frequent (79-30%)(14)

  • Abnormal nervous system morphologyHP:0012639
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Cutis marmorataHP:0000965
  • Failure to thriveHP:0001508
  • Frontal bossingHP:0002007
  • Full cheeksHP:0000293
  • Global developmental delayHP:0001263
  • High foreheadHP:0000348
  • HydrocephalusHP:0000238
  • Hypermelanotic maculeHP:0001034
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Joint hypermobilityHP:0001382
  • VentriculomegalyHP:0002119

Occasional (29-5%)(9)

  • Abnormal cardiovascular system morphologyHP:0030680
  • ArrhythmiaHP:0011675
  • Cerebral ischemiaHP:0002637
  • Chiari malformationHP:0002308
  • Deeply set eyeHP:0000490
  • Depressed nasal bridgeHP:0005280
  • NeoplasmHP:0002664
  • Optic atrophyHP:0000648
  • PolymicrogyriaHP:0002126