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Peters plus syndrome

ORPHA:709 · Malformation syndrome · Disorder

HPO 表現型（共 83 項）

Very frequent (99-80%)(22)

  • Anterior chamber synechiaeHP:0007833
  • BrachycephalyHP:0000248
  • BrachydactylyHP:0001156
  • Clinodactyly of the 5th fingerHP:0004209
  • Corneal opacityHP:0007957
  • Disproportionate short-limb short statureHP:0008873
  • Exaggerated cupid's bowHP:0002263
  • GlaucomaHP:0000501
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • Long faceHP:0000276
  • Long philtrumHP:0000343
  • MicrognathiaHP:0000347
  • MicromeliaHP:0002983
  • Peters anomalyHP:0000659
  • Round faceHP:0000311
  • Short columellaHP:0002000
  • Short footHP:0001773
  • Short neckHP:0000470
  • Short toeHP:0001831
  • Thin upper lip vermilionHP:0000219

Frequent (79-30%)(27)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormality of the pulmonary arteryHP:0004414
  • Abnormality of visionHP:0000504
  • CataractHP:0000518
  • Cleft palateHP:0000175
  • Cleft upper lipHP:0000204
  • CryptorchidismHP:0000028
  • Decreased fetal movementHP:0001558
  • Feeding difficulties in infancyHP:0008872
  • Frontal bossingHP:0002007
  • HydrocephalusHP:0000238
  • HypertelorismHP:0000316
  • HypospadiasHP:0000047
  • MicrocorneaHP:0000482
  • Microtia, second degreeHP:0008569
  • NystagmusHP:0000639
  • Postnatal growth retardationHP:0008897
  • Preauricular pitHP:0004467
  • Preauricular skin tagHP:0000384
  • Prominent foreheadHP:0011220
  • Pulmonic stenosisHP:0001642
  • Short palpebral fissureHP:0012745
  • Short statureHP:0004322
  • Toe syndactylyHP:0001770
  • Upslanted palpebral fissureHP:0000582
  • Webbed neckHP:0000465
  • Widely spaced teethHP:0000687

Occasional (29-5%)(31)

  • Anal atresiaHP:0002023
  • Anterior hypopituitarismHP:0000830
  • Anteverted naresHP:0000463
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Cerebral cortical atrophyHP:0002120
  • Clitoral hypoplasiaHP:0000060
  • Conductive hearing impairmentHP:0000405
  • Congenital hypothyroidismHP:0000851
  • Depressed nasal bridgeHP:0005280
  • HydronephrosisHP:0000126
  • Hypoplasia of the uterusHP:0000013
  • Inguinal herniaHP:0000023
  • Intestinal fistulaHP:0100819
  • MicrocephalyHP:0000252
  • Multicystic kidney dysplasiaHP:0000003
  • Optic atrophyHP:0000648
  • Patent ductus arteriosusHP:0001643
  • PolyhydramniosHP:0001561
  • Posteriorly rotated earsHP:0000358
  • Renal duplicationHP:0000075
  • Renal hypoplasia/aplasiaHP:0008678
  • RhizomeliaHP:0008905
  • Sacral dimpleHP:0000960
  • Short noseHP:0003196
  • Spina bifida occultaHP:0003298
  • Umbilical herniaHP:0001537
  • Ureteral duplicationHP:0000073
  • VentriculomegalyHP:0002119
  • Visual impairmentHP:0000505
  • Wide intermamillary distanceHP:0006610
  • Wide mouthHP:0000154

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

  • Abnormal pulmonary vein morphologyHP:0030968
  • Bicuspid pulmonary valveHP:0005182
  • Hypoplastic left ventricleHP:0004383