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Cornelia de Lange syndrome

ORPHA:199 · Malformation syndrome · Disorder

HPO 表現型（共 100 項）

Very frequent (99-80%)(35)

  • Abnormally low-pitched voiceHP:0010300
  • Anteverted naresHP:0000463
  • Atresia of the external auditory canalHP:0000413
  • BrachycephalyHP:0000248
  • Curly eyelashesHP:0007665
  • Delayed eruption of teethHP:0000684
  • Delayed skeletal maturationHP:0002750
  • Depressed nasal bridgeHP:0005280
  • Downturned corners of mouthHP:0002714
  • Gastroesophageal refluxHP:0002020
  • Generalized hirsutismHP:0002230
  • High palateHP:0000218
  • Highly arched eyebrowHP:0002553
  • HypertoniaHP:0001276
  • Intellectual disabilityHP:0001249
  • Long eyelashesHP:0000527
  • Long philtrumHP:0000343
  • Low anterior hairlineHP:0000294
  • Low posterior hairlineHP:0002162
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • MicromeliaHP:0002983
  • Proximal placement of thumbHP:0009623
  • Severe intellectual disabilityHP:0010864
  • Short 1st metacarpalHP:0010034
  • Short footHP:0001773
  • Short neckHP:0000470
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Small handHP:0200055
  • SynophrysHP:0000664
  • Thick eyebrowHP:0000574
  • Thin vermilion borderHP:0000233
  • Toe syndactylyHP:0001770
  • Widely spaced teethHP:0000687

Frequent (79-30%)(31)

  • Abnormal speech patternHP:0002167
  • AnxietyHP:0000739
  • Attention deficit hyperactivity disorderHP:0007018
  • Bilateral single transverse palmar creasesHP:0007598
  • BlepharitisHP:0000498
  • Clinodactyly of the 5th fingerHP:0004209
  • Compulsive behaviorsHP:0000722
  • Conductive hearing impairmentHP:0000405
  • CryptorchidismHP:0000028
  • Cutis marmorataHP:0000965
  • Elbow dislocationHP:0003042
  • Failure to thriveHP:0001508
  • Feeding difficulties in infancyHP:0008872
  • Hypoplasia of penisHP:0008736
  • Hypoplastic labia majoraHP:0000059
  • Hypoplastic nipplesHP:0002557
  • HypospadiasHP:0000047
  • Intrauterine growth retardationHP:0001511
  • Joint stiffnessHP:0001387
  • MicrocorneaHP:0000482
  • Multicystic kidney dysplasiaHP:0000003
  • MyopiaHP:0000545
  • Phthisis bulbiHP:0000667
  • Posteriorly rotated earsHP:0000358
  • Premature birthHP:0001622
  • PtosisHP:0000508
  • Radioulnar synostosisHP:0002974
  • Sensorineural hearing impairmentHP:0000407
  • Severe postnatal growth retardationHP:0008850
  • Sleep disturbanceHP:0002360
  • Vesicoureteral refluxHP:0000076

Occasional (29-5%)(34)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal morphology of ulnaHP:0040071
  • Abnormality of the uterusHP:0000130
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Atrial septal defectHP:0001631
  • AutismHP:0000717
  • CataractHP:0000518
  • Cerebral cortical atrophyHP:0002120
  • Choanal atresiaHP:0000453
  • Cleft palateHP:0000175
  • Congenital diaphragmatic herniaHP:0000776
  • Delayed pubertyHP:0000823
  • GlaucomaHP:0000501
  • Hip dislocationHP:0002827
  • Hip dysplasiaHP:0001385
  • HypotoniaHP:0001252
  • Increased nuchal translucencyHP:0010880
  • Intestinal malrotationHP:0002566
  • MacrotiaHP:0000400
  • NystagmusHP:0000639
  • OligodactylyHP:0012165
  • Pectus excavatumHP:0000767
  • Peripheral neuropathyHP:0009830
  • Prenatal movement abnormalityHP:0001557
  • Primary amenorrheaHP:0000786
  • Pyloric stenosisHP:0002021
  • Renal insufficiencyHP:0000083
  • SeizureHP:0001250
  • StrabismusHP:0000486
  • TalipesHP:0001883
  • Truncal obesityHP:0001956
  • Ventricular septal defectHP:0001629
  • VentriculomegalyHP:0002119
  • VolvulusHP:0002580