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Congenital limbs-face contractures-hypotonia-developmental delay syndrome

ORPHA:562528 · Malformation syndrome · Disorder

HPO 表現型（共 50 項）

Very frequent (99-80%)(3)

  • Arthrogryposis multiplex congenitaHP:0002804
  • CamptodactylyHP:0012385
  • Neurodevelopmental delayHP:0012758

Frequent (79-30%)(22)

  • Abnormal pattern of respirationHP:0002793
  • Adducted thumbHP:0001181
  • Chin with H-shaped creaseHP:0011824
  • Delayed speech and language developmentHP:0000750
  • Downslanted palpebral fissuresHP:0000494
  • Enlarged narisHP:0009931
  • Flexion contractureHP:0001371
  • Gastroesophageal refluxHP:0002020
  • Global developmental delayHP:0001263
  • HerniaHP:0100790
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Long philtrumHP:0000343
  • MicrognathiaHP:0000347
  • Motor delayHP:0001270
  • Pursed lipsHP:0000205
  • Short columellaHP:0002000
  • Short neckHP:0000470
  • StrabismusHP:0000486
  • Talipes equinovarusHP:0001762
  • Ulnar deviation of the hand or of fingers of the handHP:0001193
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(19)

  • AtaxiaHP:0001251
  • BrachycephalyHP:0000248
  • Broad foreheadHP:0000337
  • Calcaneovalgus deformityHP:0001848
  • ConstipationHP:0002019
  • DroolingHP:0002307
  • EpicanthusHP:0000286
  • EsotropiaHP:0000565
  • Feeding difficultiesHP:0011968
  • High palateHP:0000218
  • HypertoniaHP:0001276
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • Narrow mouthHP:0000160
  • Respiratory insufficiencyHP:0002093
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Smooth philtrumHP:0000319

Very rare (<4-1%)(6)

  • ArachnodactylyHP:0001166
  • HypertelorismHP:0000316
  • MacrocephalyHP:0000256
  • MacrotiaHP:0000400
  • MyopiaHP:0000545
  • Slender noseHP:0000417