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Beckwith-Wiedemann syndrome

ORPHA:116 · Malformation syndrome · Disorder

HPO 表現型（共 85 項）

Very frequent (99-80%)(3)

  • Large for gestational ageHP:0001520
  • NeoplasmHP:0002664
  • Tall statureHP:0000098

Frequent (79-30%)(40)

  • Abnormal earlobe morphologyHP:0000363
  • Abnormal midface morphologyHP:0000309
  • Accelerated skeletal maturationHP:0005616
  • Anterior creases of earlobeHP:0009908
  • Asymmetric growthHP:0100555
  • Chorioretinal scalloped atrophyHP:0001139
  • Coarse facial featuresHP:0000280
  • Congenital diaphragmatic herniaHP:0000776
  • Enlarged kidneyHP:0000105
  • Exocrine pancreatic insufficiencyHP:0001738
  • HemihypertrophyHP:0001528
  • HypercalciuriaHP:0002150
  • HyperinsulinemiaHP:0000842
  • HypoglycemiaHP:0001943
  • Infra-orbital creaseHP:0100876
  • Large placentaHP:0006267
  • Linear earlobe creaseHP:0031510
  • Long umbilical cordHP:0011417
  • MacroglossiaHP:0000158
  • Mandibular prognathiaHP:0000303
  • Melanocytic nevusHP:0000995
  • Midface retrusionHP:0011800
  • Multiple small medullary renal cystsHP:0008659
  • Neonatal hypoglycemiaHP:0001998
  • NephrocalcinosisHP:0000121
  • NephropathyHP:0000112
  • Nevus flammeusHP:0001052
  • ObesityHP:0001513
  • OmphaloceleHP:0001539
  • PolyhydramniosHP:0001561
  • Postauricular pitHP:0004464
  • Posterior helix pitHP:0008523
  • Premature birthHP:0001622
  • Prominent occiputHP:0000269
  • ProptosisHP:0000520
  • Redundant skinHP:0001582
  • Subchorionic septal cystHP:0030720
  • Umbilical herniaHP:0001537
  • VisceromegalyHP:0003271
  • Wide mouthHP:0000154

Occasional (29-5%)(39)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal pancreas morphologyHP:0012090
  • Abnormal speech patternHP:0002167
  • Adrenocortical carcinomaHP:0006744
  • Adrenocortical cytomegalyHP:0008186
  • CardiomegalyHP:0001640
  • Cleft palateHP:0000175
  • Congenital megaureterHP:0008676
  • CryptorchidismHP:0000028
  • Delayed gross motor developmentHP:0002194
  • Diastasis rectiHP:0001540
  • Elevated circulating alpha-fetoprotein concentrationHP:0006254
  • Facial hemangiomaHP:0000329
  • Feeding difficulties in infancyHP:0008872
  • GonadoblastomaHP:0000150
  • HepatoblastomaHP:0002884
  • HepatomegalyHP:0002240
  • Hypertrophic cardiomyopathyHP:0001639
  • HypothyroidismHP:0000821
  • Inguinal herniaHP:0000023
  • Kidney stoneHP:0000787
  • Large fontanellesHP:0000239
  • Large intestinal polyposisHP:0030255
  • LeiomyosarcomaHP:0100243
  • Multiple renal cystsHP:0005562
  • NephroblastomaHP:0002667
  • NeuroblastomaHP:0003006
  • Neurodevelopmental delayHP:0012758
  • OtosclerosisHP:0000362
  • PolycythemiaHP:0001901
  • Prominent metopic ridgeHP:0005487
  • RhabdomyosarcomaHP:0002859
  • Sleep apneaHP:0010535
  • SplenomegalyHP:0001744
  • Thin upper lip vermilionHP:0000219
  • Ureteral duplicationHP:0000073
  • Urogenital fistulaHP:0100589
  • Vesicoureteral refluxHP:0000076
  • Wide anterior fontanelHP:0000260

Very rare (<4-1%)(3)

  • Chiari malformationHP:0002308
  • Hearing impairmentHP:0000365
  • PseudohypoparathyroidismHP:0000852