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Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome

ORPHA:2570 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(6)

  • Aplasia/Hypoplasia of the lungsHP:0006703
  • Decreased fetal movementHP:0001558
  • HoloprosencephalyHP:0001360
  • Limitation of joint mobilityHP:0001376
  • MicrocephalyHP:0000252
  • Multiple joint contracturesHP:0002828

Frequent (79-30%)(5)

  • Camptodactyly of fingerHP:0100490
  • Enlarged thoraxHP:0100625
  • Low-set earsHP:0000369
  • Short neckHP:0000470
  • Sloping foreheadHP:0000340

Occasional (29-5%)(13)

  • Abnormal dermatoglyphicsHP:0007477
  • Abnormal diencephalon morphologyHP:0010662
  • Abnormal pleura morphologyHP:0002103
  • Adducted thumbHP:0001181
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • BlepharophimosisHP:0000581
  • Cerebral cortical atrophyHP:0002120
  • Deeply set eyeHP:0000490
  • HydranencephalyHP:0002324
  • Intrauterine growth retardationHP:0001511
  • MicrognathiaHP:0000347
  • Renal hypoplasia/aplasiaHP:0008678