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Coffin-Siris syndrome

ORPHA:1465 · Malformation syndrome · Disorder

HPO 表現型（共 65 項）

Very frequent (99-80%)(8)

  • Coarse facial featuresHP:0000280
  • Feeding difficultiesHP:0011968
  • HypertrichosisHP:0000998
  • Prominent eyelashesHP:0011231
  • Small nailHP:0001792
  • Thick eyebrowHP:0000574
  • Thick lower lip vermilionHP:0000179
  • Wide mouthHP:0000154

Frequent (79-30%)(37)

  • Abnormal facial shapeHP:0001999
  • Abnormal heart morphologyHP:0001627
  • Abnormality of the genitourinary systemHP:0000119
  • Anteverted naresHP:0000463
  • Aspiration pneumoniaHP:0011951
  • Atypical behaviorHP:0000708
  • Broad nasal tipHP:0000455
  • Broad philtrumHP:0000289
  • ClinodactylyHP:0030084
  • CryptorchidismHP:0000028
  • Delayed eruption of teethHP:0000684
  • Delayed skeletal maturationHP:0002750
  • Depressed nasal bridgeHP:0005280
  • Floppy infantHP:0008947
  • Growth delayHP:0001510
  • Hearing impairmentHP:0000365
  • HirsutismHP:0001007
  • Hypoplastic fifth fingernailHP:0008398
  • Hypoplastic fifth toenailHP:0011937
  • Joint hypermobilityHP:0001382
  • Low anterior hairlineHP:0000294
  • Moderate intellectual disabilityHP:0002342
  • Postnatal growth retardationHP:0008897
  • PtosisHP:0000508
  • Recurrent infectionsHP:0002719
  • Recurrent upper respiratory tract infectionsHP:0002788
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864
  • Short 5th fingerHP:0009237
  • Short noseHP:0003196
  • Sparse scalp hairHP:0002209
  • StrabismusHP:0000486
  • Thick nasal alaeHP:0009928
  • Thin upper lip vermilionHP:0000219
  • Visual impairmentHP:0000505
  • Wide nasal baseHP:0012810

Occasional (29-5%)(16)

  • Absent speechHP:0001344
  • Agenesis of corpus callosumHP:0001274
  • Aggressive behaviorHP:0000718
  • Atrial septal defectHP:0001631
  • Autistic behaviorHP:0000729
  • Dandy-Walker malformationHP:0001305
  • HerniaHP:0100790
  • Horseshoe kidneyHP:0000085
  • HyperactivityHP:0000752
  • HypospadiasHP:0000047
  • MyopiaHP:0000545
  • Oral aversionHP:0012523
  • Patent ductus arteriosusHP:0001643
  • Simplified gyral patternHP:0009879
  • Tetralogy of FallotHP:0001636
  • Ventricular septal defectHP:0001629

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

  • HepatoblastomaHP:0002884
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • Papillary thyroid carcinomaHP:0002895