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Schinzel-Giedion syndrome

ORPHA:798 · Malformation syndrome · Disorder

HPO 表現型（共 92 項）

Very frequent (99-80%)(7)

  • Broad foreheadHP:0000337
  • Broad nasal tipHP:0000455
  • Frontal bossingHP:0002007
  • Midface retrusionHP:0011800
  • Neurodevelopmental delayHP:0012758
  • Profound global developmental delayHP:0012736
  • Short noseHP:0003196

Frequent (79-30%)(23)

  • Abnormal heart morphologyHP:0001627
  • Abnormal helix morphologyHP:0011039
  • Abnormality of the genital systemHP:0000078
  • Abnormality of the outer earHP:0000356
  • Broad ribsHP:0000885
  • Facial hemangiomaHP:0000329
  • Failure to thrive in infancyHP:0001531
  • Generalized hypertrichosisHP:0004554
  • HydronephrosisHP:0000126
  • HypertelorismHP:0000316
  • Hypoplasia of the corpus callosumHP:0002079
  • Low-set earsHP:0000369
  • MacroglossiaHP:0000158
  • Narrow foreheadHP:0000341
  • ProptosisHP:0000520
  • SeizureHP:0001250
  • Shallow orbitsHP:0000586
  • Short distal phalanx of fingerHP:0009882
  • Short neckHP:0000470
  • VentriculomegalyHP:0002119
  • Visual impairmentHP:0000505
  • Wide anterior fontanelHP:0000260
  • Wide mouthHP:0000154

Occasional (29-5%)(33)

  • Abnormal clavicle morphologyHP:0000889
  • Abnormal cochlea morphologyHP:0000375
  • Abnormal stapes morphologyHP:0008628
  • Abnormal thorax morphologyHP:0000765
  • Abnormality of the gingivaHP:0000168
  • Aganglionic megacolonHP:0002251
  • AlacrimaHP:0000522
  • Annular pancreasHP:0001734
  • Anteriorly placed anusHP:0001545
  • Broad alveolar ridgesHP:0000187
  • Cerebral cortical atrophyHP:0002120
  • Chiari type I malformationHP:0007099
  • Choanal stenosisHP:0000452
  • Choroid plexus cystHP:0002190
  • Delayed eruption of teethHP:0000684
  • High palateHP:0000218
  • Hypoplastic pubic boneHP:0003173
  • Infantile sensorineural hearing impairmentHP:0008610
  • KyphoscoliosisHP:0002751
  • MicrognathiaHP:0000347
  • Neural tube defectHP:0045005
  • Overlapping fingersHP:0010557
  • Overlapping toeHP:0001845
  • Pulmonary hypoplasiaHP:0002089
  • Respiratory distressHP:0002098
  • RetrognathiaHP:0000278
  • Sclerosis of skull baseHP:0002694
  • Short 1st metacarpalHP:0010034
  • Streak ovaryHP:0010464
  • TeratomaHP:0009792
  • Tibial bowingHP:0002982
  • Umbilical herniaHP:0001537
  • Wormian bonesHP:0002645

Very rare (<4-1%)(29)

  • Abnormality of the ureterHP:0000069
  • CamptodactylyHP:0012385
  • Central hypothyroidismHP:0011787
  • Coarse facial featuresHP:0000280
  • DysphagiaHP:0002015
  • EpendymomaHP:0002888
  • Epileptic spasmHP:0011097
  • Gastrostomy tube feeding in infancyHP:0011471
  • HepatoblastomaHP:0002884
  • HypertoniaHP:0001276
  • Hypoplasia of the epiglottisHP:0005349
  • HypospadiasHP:0000047
  • HypsarrhythmiaHP:0002521
  • Inguinal herniaHP:0000023
  • Kidney stoneHP:0000787
  • Large earlobeHP:0009748
  • LaryngomalaciaHP:0001601
  • MicropenisHP:0000054
  • Myeloid leukemiaHP:0012324
  • NephroblastomaHP:0002667
  • Radioulnar synostosisHP:0002974
  • Recurrent pneumoniaHP:0006532
  • Renal cystHP:0000107
  • Sacrococcygeal teratomaHP:0030736
  • ScoliosisHP:0002650
  • Short philtrumHP:0000322
  • SpasticityHP:0001257
  • Stiff elbowHP:0025259
  • Vocal cord paralysisHP:0001605