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Otopalatodigital syndrome type 2

ORPHA:90652 · Malformation syndrome · Disorder

HPO 表現型（共 55 項）

Very frequent (99-80%)(21)

  • Abnormal pinna morphologyHP:0000377
  • AnodontiaHP:0000674
  • Bowing of the long bonesHP:0006487
  • Broad foreheadHP:0000337
  • Cleft palateHP:0000175
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • Hearing impairmentHP:0000365
  • HypertelorismHP:0000316
  • Large fontanellesHP:0000239
  • Low-set earsHP:0000369
  • Malar flatteningHP:0000272
  • Narrow chestHP:0000774
  • Narrow mouthHP:0000160
  • OligodontiaHP:0000677
  • Prominent supraorbital ridgesHP:0000336
  • Pulmonary hypoplasiaHP:0002089
  • Short halluxHP:0010109
  • Short noseHP:0003196
  • Short thumbHP:0009778
  • Skeletal dysplasiaHP:0002652

Frequent (79-30%)(25)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormal heart valve morphologyHP:0001654
  • Abnormal metacarpal morphologyHP:0005916
  • Abnormal rib morphologyHP:0000772
  • Abnormal vertebral segmentation and fusionHP:0005640
  • Camptodactyly of fingerHP:0100490
  • Cerebellar hypoplasiaHP:0001321
  • Elbow dislocationHP:0003042
  • Failure to thriveHP:0001508
  • Fibular aplasiaHP:0002990
  • Flared iliac wingHP:0002869
  • Global developmental delayHP:0001263
  • GlossoptosisHP:0000162
  • HydrocephalusHP:0000238
  • HydronephrosisHP:0000126
  • Hypoplastic frontal sinusesHP:0002738
  • HypospadiasHP:0000047
  • Increased bone mineral densityHP:0011001
  • Intellectual disabilityHP:0001249
  • MicrognathiaHP:0000347
  • OmphaloceleHP:0001539
  • Pierre-Robin sequenceHP:0000201
  • Short palmHP:0004279
  • Thickened calvariaHP:0002684
  • Ureteral obstructionHP:0006000

Occasional (29-5%)(9)

  • Carpal synostosisHP:0009702
  • CataractHP:0000518
  • Developmental glaucomaHP:0001087
  • EncephaloceleHP:0002084
  • MyelomeningoceleHP:0002475
  • Preaxial polydactylyHP:0100258
  • ScoliosisHP:0002650
  • Synostosis of carpal bonesHP:0005048
  • Tarsal synostosisHP:0008368