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Dubowitz syndrome

ORPHA:235 · Malformation syndrome · Disorder

HPO 表現型（共 102 項）

Very frequent (99-80%)(10)

  • Abnormality of thumb phalanxHP:0009602
  • Aplasia/Hypoplasia of the thumbHP:0009601
  • Broad thumbHP:0011304
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • Short statureHP:0004322
  • TelecanthusHP:0000506
  • Underdeveloped supraorbital ridgesHP:0009891

Frequent (79-30%)(35)

  • Abnormal antihelix morphologyHP:0009738
  • Abnormal female external genitalia morphologyHP:0000055
  • Abnormally high-pitched voiceHP:0001620
  • Attention deficit hyperactivity disorderHP:0007018
  • BlepharophimosisHP:0000581
  • Clinodactyly of the 5th fingerHP:0004209
  • CryptorchidismHP:0000028
  • Delayed cranial suture closureHP:0000270
  • Delayed skeletal maturationHP:0002750
  • Depressed nasal bridgeHP:0005280
  • Eczematoid dermatitisHP:0000964
  • EpicanthusHP:0000286
  • Failure to thriveHP:0001508
  • Fine hairHP:0002213
  • Hoarse voiceHP:0001609
  • HypospadiasHP:0000047
  • Low anterior hairlineHP:0000294
  • MicrognathiaHP:0000347
  • Narrow faceHP:0000275
  • Neurodevelopmental delayHP:0012758
  • Posteriorly rotated earsHP:0000358
  • Postnatal growth retardationHP:0008897
  • Protruding earHP:0000411
  • PtosisHP:0000508
  • Recurrent infectionsHP:0002719
  • Recurrent otitis mediaHP:0000403
  • Respiratory insufficiencyHP:0002093
  • Sandal gapHP:0001852
  • Short footHP:0001773
  • Sloping foreheadHP:0000340
  • Small handHP:0200055
  • Sparse lateral eyebrowHP:0005338
  • Sparse scalp hairHP:0002209
  • Submucous cleft hard palateHP:0000176
  • Wide anterior fontanelHP:0000260

Occasional (29-5%)(49)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal fingernail morphologyHP:0001231
  • Abnormal heart morphologyHP:0001627
  • Abnormal skin pigmentationHP:0001000
  • Abnormality of neutrophilsHP:0001874
  • Abnormality of the dentitionHP:0000164
  • Anal stenosisHP:0002025
  • AnemiaHP:0001903
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • AsthmaHP:0002099
  • Auditory hypersensitivityHP:5200060
  • BrachydactylyHP:0001156
  • CataractHP:0000518
  • Chronic diarrheaHP:0002028
  • ConstipationHP:0002019
  • CraniosynostosisHP:0001363
  • Cutis marmorataHP:0000965
  • Delayed eruption of teethHP:0000684
  • Delayed speech and language developmentHP:0000750
  • Dental crowdingHP:0000678
  • Dry skinHP:0000958
  • Feeding difficulties in infancyHP:0008872
  • Gastroesophageal refluxHP:0002020
  • Hearing impairmentHP:0000365
  • High palateHP:0000218
  • HydrocephalusHP:0000238
  • HydronephrosisHP:0000126
  • HypoparathyroidismHP:0000829
  • Hypoplastic toenailsHP:0001800
  • HypotoniaHP:0001252
  • Joint hypermobilityHP:0001382
  • MalabsorptionHP:0002024
  • Metatarsus adductusHP:0001840
  • MyopiaHP:0000545
  • NystagmusHP:0000639
  • Pectus excavatumHP:0000767
  • PhotophobiaHP:0000613
  • Rectal prolapseHP:0002035
  • Sacral dimpleHP:0000960
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Short attention spanHP:0000736
  • Sleep disturbanceHP:0002360
  • Specific learning disabilityHP:0001328
  • Spina bifida occultaHP:0003298
  • StrabismusHP:0000486
  • ThrombocytopeniaHP:0001873
  • Toe syndactylyHP:0001770
  • VomitingHP:0002013

Very rare (<4-1%)(8)

  • Acute lymphoblastic leukemiaHP:0006721
  • Decreased response to growth hormone stimulation testHP:0000824
  • Iris colobomaHP:0000612
  • LymphomaHP:0002665
  • MegalocorneaHP:0000485
  • MicrophthalmiaHP:0000568
  • NeoplasmHP:0002664
  • Wide mouthHP:0000154