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Autosomal recessive Robinow syndrome

ORPHA:1507 · Clinical subtype · Subtype of disorder

HPO 表現型（共 80 項）

Very frequent (99-80%)(16)

  • Abnormality of the dentitionHP:0000164
  • Anteverted naresHP:0000463
  • BrachydactylyHP:0001156
  • Clinodactyly of the 5th fingerHP:0004209
  • Disproportionate short-limb short statureHP:0008873
  • Downturned corners of mouthHP:0002714
  • HypertelorismHP:0000316
  • Hypoplasia of penisHP:0008736
  • MesomeliaHP:0003027
  • Midface retrusionHP:0011800
  • Open biteHP:0010807
  • Short distal phalanx of fingerHP:0009882
  • Short noseHP:0003196
  • Vertebral segmentation defectHP:0003422
  • Wide mouthHP:0000154
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(28)

  • AnkyloglossiaHP:0010296
  • Bifid tongueHP:0010297
  • Broad hallux phalanxHP:0010059
  • Broad thumbHP:0011304
  • Chronic otitis mediaHP:0000389
  • CryptorchidismHP:0000028
  • Depressed nasal bridgeHP:0005280
  • Elbow dislocationHP:0003042
  • EpicanthusHP:0000286
  • Fingernail dysplasiaHP:0100798
  • Frontal bossingHP:0002007
  • Gingival overgrowthHP:0000212
  • Hearing impairmentHP:0000365
  • Hypoplastic female external genitaliaHP:0012815
  • KyphosisHP:0002808
  • Long eyelashesHP:0000527
  • Long palpebral fissureHP:0000637
  • Long philtrumHP:0000343
  • MacrocephalyHP:0000256
  • MicrognathiaHP:0000347
  • Pectus excavatumHP:0000767
  • Posteriorly rotated earsHP:0000358
  • ProptosisHP:0000520
  • Rib fusionHP:0000902
  • ScoliosisHP:0002650
  • Tented upper lip vermilionHP:0010804
  • Umbilical herniaHP:0001537
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(36)

  • Abnormal aortic morphologyHP:0001679
  • Abnormal hip bone morphologyHP:0003272
  • Abnormal palate morphologyHP:0000174
  • Abnormal pulmonary valve morphologyHP:0001641
  • Abnormal tricuspid valve morphologyHP:0001702
  • AlopeciaHP:0001596
  • Atrial septal defectHP:0001631
  • Bilateral single transverse palmar creasesHP:0007598
  • Blue scleraeHP:0000592
  • Camptodactyly of fingerHP:0100490
  • Death in infancyHP:0001522
  • Downslanted palpebral fissuresHP:0000494
  • Ectopic anusHP:0004397
  • Exaggerated cupid's bowHP:0002263
  • Finger syndactylyHP:0006101
  • HydronephrosisHP:0000126
  • HypodontiaHP:0000668
  • Inguinal herniaHP:0000023
  • Intellectual disabilityHP:0001249
  • Multicystic kidney dysplasiaHP:0000003
  • Nevus flammeusHP:0001052
  • Orofacial cleftHP:0000202
  • Pectus carinatumHP:0000768
  • PtosisHP:0000508
  • Recurrent respiratory infectionsHP:0002205
  • Sacral dimpleHP:0000960
  • Sandal gapHP:0001852
  • Short neckHP:0000470
  • Short philtrumHP:0000322
  • Split handHP:0001171
  • StrabismusHP:0000486
  • Supernumerary toothHP:0011069
  • Synostosis of carpal bonesHP:0005048
  • Tetralogy of FallotHP:0001636
  • Toe syndactylyHP:0001770
  • Ventricular septal defectHP:0001629