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Monosomy 18q syndrome

ORPHA:1600 · Malformation syndrome · Disorder

HPO 表現型（共 65 項）

Frequent (79-30%)(29)

  • Abnormal facial shapeHP:0001999
  • Abnormal myelinationHP:0012447
  • Abnormal palmar dermatoglyphicsHP:0001018
  • Abnormal retinal morphologyHP:0000479
  • ArachnodactylyHP:0001166
  • Bilateral conductive hearing impairmentHP:0008513
  • Bilateral cryptorchidismHP:0008689
  • Delayed skeletal maturationHP:0002750
  • Depressed nasal bridgeHP:0005280
  • Diffuse white matter abnormalitiesHP:0007204
  • Downturned corners of mouthHP:0002714
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Intellectual disabilityHP:0001249
  • KyphoscoliosisHP:0002751
  • MacrotiaHP:0000400
  • Mandibular prognathiaHP:0000303
  • MicropenisHP:0000054
  • Mild intellectual disabilityHP:0001256
  • MyopiaHP:0000545
  • Neonatal hypotoniaHP:0001319
  • Patent ductus arteriosusHP:0001643
  • Pes planusHP:0001763
  • Poor coordinationHP:0002370
  • Pulmonary valve defectsHP:0005148
  • Secondary growth hormone deficiencyHP:0008240
  • Short statureHP:0004322
  • Talipes equinovarusHP:0001762
  • Tapered fingerHP:0001182

Occasional (29-5%)(34)

  • Absence of the pulmonary valveHP:0005134
  • Aortic aneurysmHP:0004942
  • Aortic valve stenosisHP:0001650
  • Biparietal narrowingHP:0004422
  • Bulbous noseHP:0000414
  • Cerebellar hypoplasiaHP:0001321
  • Choanal stenosisHP:0000452
  • ChoreoathetosisHP:0001266
  • Congestive heart failureHP:0001635
  • Decreased circulating IgA concentrationHP:0002720
  • Downslanted palpebral fissuresHP:0000494
  • Dysplastic pulmonary valveHP:0005164
  • EpicanthusHP:0000286
  • Failure to thriveHP:0001508
  • High palateHP:0000218
  • HydrocephalusHP:0000238
  • HypothyroidismHP:0000821
  • Joint hypermobilityHP:0001382
  • Left aortic arch with right descending aorta and right ductus arteriosusHP:0011596
  • Left-to-right shuntHP:0012382
  • Low anterior hairlineHP:0000294
  • MicrocephalyHP:0000252
  • Mitral regurgitationHP:0001653
  • Open mouthHP:0000194
  • Pectus excavatumHP:0000767
  • Prominent noseHP:0000448
  • Secundum atrial septal defectHP:0001684
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Short philtrumHP:0000322
  • Slender buildHP:0001533
  • StrabismusHP:0000486
  • Thick vermilion borderHP:0012471
  • Wide mouthHP:0000154

Very rare (<4-1%)(2)

  • AstrocytomaHP:0009592
  • Atlantoaxial abnormalityHP:0003413