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3C syndrome

ORPHA:7 · Malformation syndrome · Disorder

HPO 表現型（共 64 項）

Very frequent (99-80%)(9)

  • Abnormal cranial suture/fontanelle morphologyHP:0000235
  • Abnormal speech patternHP:0002167
  • Dandy-Walker malformationHP:0001305
  • Frontal bossingHP:0002007
  • Global developmental delayHP:0001263
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(25)

  • Abnormal mitral valve morphologyHP:0001633
  • Abnormal tricuspid valve morphologyHP:0001702
  • Aortic valve stenosisHP:0001650
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Atrial septal defectHP:0001631
  • Atrioventricular canal defectHP:0006695
  • Cleft palateHP:0000175
  • Death in infancyHP:0001522
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • High, narrow palateHP:0002705
  • HydrocephalusHP:0000238
  • Hypoplastic left ventricleHP:0004383
  • KyphosisHP:0002808
  • Low-set earsHP:0000369
  • MacrocephalyHP:0000256
  • Prominent occiputHP:0000269
  • Pulmonic stenosisHP:0001642
  • Recurrent respiratory infectionsHP:0002205
  • ScoliosisHP:0002650
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Tetralogy of FallotHP:0001636
  • Ventricular septal defectHP:0001629
  • VentriculomegalyHP:0002119

Occasional (29-5%)(30)

  • Abnormal hip bone morphologyHP:0003272
  • Abnormality of neuronal migrationHP:0002269
  • Adrenal hypoplasiaHP:0000835
  • Anal atresiaHP:0002023
  • Aplasia/Hypoplasia of the nipplesHP:0006709
  • BrachydactylyHP:0001156
  • Chorioretinal colobomaHP:0000567
  • Ectopic anusHP:0004397
  • Facial hemangiomaHP:0000329
  • Feeding difficulties in infancyHP:0008872
  • Finger syndactylyHP:0006101
  • Gastroesophageal refluxHP:0002020
  • GlaucomaHP:0000501
  • Hand polydactylyHP:0001161
  • HemivertebraeHP:0002937
  • HydronephrosisHP:0000126
  • Hypoplasia of penisHP:0008736
  • Hypoplastic fingernailHP:0001804
  • HypospadiasHP:0000047
  • Inguinal herniaHP:0000023
  • Intestinal malrotationHP:0002566
  • Iris colobomaHP:0000612
  • MicrognathiaHP:0000347
  • Missing ribsHP:0000921
  • Optic atrophyHP:0000648
  • Orofacial cleftHP:0000202
  • Postnatal growth retardationHP:0008897
  • Preauricular skin tagHP:0000384
  • Short neckHP:0000470
  • Single umbilical arteryHP:0001195