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Autosomal dominant Robinow syndrome

ORPHA:3107 · Clinical subtype · Subtype of disorder

HPO 表現型（共 80 項）

Very frequent (99-80%)(10)

  • Anteverted naresHP:0000463
  • BrachydactylyHP:0001156
  • HypertelorismHP:0000316
  • Hypoplasia of penisHP:0008736
  • MicromeliaHP:0002983
  • Midface retrusionHP:0011800
  • Short noseHP:0003196
  • Short palmHP:0004279
  • Wide nasal bridgeHP:0000431
  • Wide noseHP:0000445

Frequent (79-30%)(32)

  • Abnormal vertebral body morphologyHP:0003312
  • Abnormality of the gingivaHP:0000168
  • Bifid tongueHP:0010297
  • Clinodactyly of the 5th fingerHP:0004209
  • Clitoral hypoplasiaHP:0000060
  • CryptorchidismHP:0000028
  • Curly eyelashesHP:0007665
  • Depressed nasal bridgeHP:0005280
  • Downturned corners of mouthHP:0002714
  • EpicanthusHP:0000286
  • EuryblepharonHP:0012905
  • Frontal bossingHP:0002007
  • Gingival overgrowthHP:0000212
  • HemivertebraeHP:0002937
  • High, narrow palateHP:0002705
  • Hypoplastic labia majoraHP:0000059
  • Hypoplastic labia minoraHP:0000064
  • Long eyelashesHP:0000527
  • Long palpebral fissureHP:0000637
  • Long philtrumHP:0000343
  • MacrocephalyHP:0000256
  • Median cleft palateHP:0009099
  • MicrognathiaHP:0000347
  • Open biteHP:0010807
  • Pectus excavatumHP:0000767
  • Prominent foreheadHP:0011220
  • ProptosisHP:0000520
  • RetrognathiaHP:0000278
  • Severe short statureHP:0003510
  • Short statureHP:0004322
  • Umbilical herniaHP:0001537
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(38)

  • Abnormal penis morphologyHP:0000036
  • AlopeciaHP:0001596
  • AnodontiaHP:0000674
  • Avascular necrosis of the capital femoral epiphysisHP:0005743
  • Blue scleraeHP:0000592
  • Camptodactyly of fingerHP:0100490
  • Capillary hemangiomaHP:0005306
  • Coxa valgaHP:0002673
  • Coxa varaHP:0002812
  • Downslanted palpebral fissuresHP:0000494
  • Elbow dislocationHP:0003042
  • EpispadiasHP:0000039
  • Femoral herniaHP:0100541
  • Finger syndactylyHP:0006101
  • Fingernail dysplasiaHP:0100798
  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • Hip dislocationHP:0002827
  • Hip dysplasiaHP:0001385
  • HypodontiaHP:0000668
  • HypospadiasHP:0000047
  • Inguinal herniaHP:0000023
  • Intellectual disabilityHP:0001249
  • Low-set earsHP:0000369
  • Naevus flammeus of the eyelidHP:0010733
  • OligodontiaHP:0000677
  • Onychogryphosis of fingernailHP:0040036
  • Pectus carinatumHP:0000768
  • Posteriorly rotated earsHP:0000358
  • PtosisHP:0000508
  • Ridged fingernailHP:0008402
  • Sacral dimpleHP:0000960
  • ScoliosisHP:0002650
  • Short neckHP:0000470
  • Short philtrumHP:0000322
  • Specific learning disabilityHP:0001328
  • StrabismusHP:0000486
  • Supernumerary toothHP:0011069