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Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome

ORPHA:453499 · Malformation syndrome · Disorder

HPO 表現型（共 71 項）

Very frequent (99-80%)(13)

  • Abnormal heart morphologyHP:0001627
  • Abnormal helix morphologyHP:0011039
  • Abnormality of the genitourinary systemHP:0000119
  • Coarse facial featuresHP:0000280
  • Delayed speech and language developmentHP:0000750
  • HydronephrosisHP:0000126
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Long faceHP:0000276
  • Long palpebral fissureHP:0000637
  • Motor delayHP:0001270
  • Poor speechHP:0002465
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(29)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • Cleft palateHP:0000175
  • ConstipationHP:0002019
  • CraniosynostosisHP:0001363
  • CryptorchidismHP:0000028
  • Diminished deep tendon reflexHP:0001315
  • Downturned corners of mouthHP:0002714
  • Failure to thriveHP:0001508
  • Furrowed tongueHP:0000221
  • Gastroesophageal refluxHP:0002020
  • Gastrointestinal dysmotilityHP:0002579
  • Hearing impairmentHP:0000365
  • High palateHP:0000218
  • Hip dysplasiaHP:0001385
  • Hypoplasia of the corpus callosumHP:0002079
  • Increased nuchal translucencyHP:0010880
  • Intrauterine growth retardationHP:0001511
  • Inverted nipplesHP:0003186
  • MicrocephalyHP:0000252
  • Open mouthHP:0000194
  • Prominent metopic ridgeHP:0005487
  • PtosisHP:0000508
  • ScoliosisHP:0002650
  • Shallow orbitsHP:0000586
  • TalipesHP:0001883
  • Underdeveloped nasal alaeHP:0000430
  • Ventricular septal defectHP:0001629
  • Vertebral segmentation defectHP:0003422
  • Vesicoureteral refluxHP:0000076

Occasional (29-5%)(28)

  • Abnormal bladder morphologyHP:0025487
  • AreflexiaHP:0001284
  • Ascending tubular aorta aneurysmHP:0004970
  • Atrial septal defectHP:0001631
  • Atrioventricular canal defectHP:0006695
  • Bicuspid aortic valveHP:0001647
  • Bifid uvulaHP:0000193
  • Branchial anomalyHP:0009794
  • BruxismHP:0003763
  • ColobomaHP:0000589
  • Cystic hygromaHP:0000476
  • Gray matter heterotopiaHP:0002282
  • Heat intoleranceHP:0002046
  • Horizontal nystagmusHP:0000666
  • Hypohidrosis or hyperhidrosisHP:0007550
  • HypothyroidismHP:0000821
  • Impaired pain sensationHP:0007328
  • MacroglossiaHP:0000158
  • Muscle weaknessHP:0001324
  • Nasogastric tube feeding in infancyHP:0011470
  • OligodontiaHP:0000677
  • OsteopeniaHP:0000938
  • PlagiocephalyHP:0001357
  • Pleural effusionHP:0002202
  • Preauricular pitHP:0004467
  • Recurrent feverHP:0001954
  • SeizureHP:0001250
  • SyringomyeliaHP:0003396

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

  • Abnormality of the gastrointestinal tractHP:0011024