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DOORS syndrome

ORPHA:79500 · Malformation syndrome · Disorder

HPO 表現型（共 89 項）

Very frequent (99-80%)(13)

  • Abnormal finger morphologyHP:0001167
  • Abnormal fingernail morphologyHP:0001231
  • Abnormal toe morphologyHP:0001780
  • Abnormal toenail morphologyHP:0008388
  • Absent fingernailHP:0001817
  • Anteverted naresHP:0000463
  • EEG abnormalityHP:0002353
  • Gingival overgrowthHP:0000212
  • Global developmental delayHP:0001263
  • Long philtrumHP:0000343
  • Toenail dysplasiaHP:0100797
  • Wide nasal baseHP:0012810
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(22)

  • Aplasia/Hypoplasia of the phalanges of the 2nd toeHP:0010347
  • Bilateral tonic-clonic seizureHP:0002069
  • Bulbous noseHP:0000414
  • Clinodactyly of the 5th fingerHP:0004209
  • Coarse facial featuresHP:0000280
  • Downturned corners of mouthHP:0002714
  • EpicanthusHP:0000286
  • Floppy infantHP:0008947
  • Focal impaired awareness seizureHP:0002384
  • HypertelorismHP:0000316
  • HyporeflexiaHP:0001265
  • Increased urine alpha-ketoglutarate concentrationHP:0012402
  • Low anterior hairlineHP:0000294
  • Low-set earsHP:0000369
  • Open mouthHP:0000194
  • PolyhydramniosHP:0001561
  • Poor suckHP:0002033
  • Short 5th fingerHP:0009237
  • Short distal phalanx of fingerHP:0009882
  • Thick lower lip vermilionHP:0000179
  • Thickened nuchal skin foldHP:0000474
  • Thin upper lip vermilionHP:0000219

Occasional (29-5%)(33)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the urinary systemHP:0000079
  • Aspiration pneumoniaHP:0011951
  • Autistic behaviorHP:0000729
  • Bilateral ptosisHP:0001488
  • BrachycephalyHP:0000248
  • Broad alveolar ridgesHP:0000187
  • Broad nasal tipHP:0000455
  • Capillary hemangiomaHP:0005306
  • Cleft palateHP:0000175
  • Congenital hypothyroidismHP:0000851
  • Delayed eruption of permanent teethHP:0000696
  • Double outlet right ventricleHP:0001719
  • Feeding difficultiesHP:0011968
  • Frontal bossingHP:0002007
  • Gastroesophageal refluxHP:0002020
  • Macrodontia of permanent maxillary central incisorHP:0000675
  • Malalignment of the great toenailHP:0031282
  • MicrocephalyHP:0000252
  • MyoclonusHP:0001336
  • MyopiaHP:0000545
  • Narrow palateHP:0000189
  • NephrocalcinosisHP:0000121
  • Optic atrophyHP:0000648
  • Peripheral neuropathyHP:0009830
  • Prominent occiputHP:0000269
  • Respiratory distressHP:0002098
  • Sagittal craniosynostosisHP:0004442
  • Short lingual frenulumHP:0000200
  • Small cerebellar cortexHP:0031423
  • Triphalangeal thumbHP:0001199
  • Widely spaced teethHP:0000687

Very rare (<4-1%)(21)

  • 11 pairs of ribsHP:0000878
  • Abnormal placental membrane morphologyHP:0011409
  • Adrenal hyperplasiaHP:0008221
  • Ambiguous genitaliaHP:0000062
  • Anterior plagiocephalyHP:0011326
  • ArrhinencephalyHP:0002139
  • Atresia of the external auditory canalHP:0000413
  • CataractHP:0000518
  • Congenital nystagmusHP:0006934
  • Cutaneous syndactylyHP:0012725
  • Dandy-Walker malformationHP:0001305
  • Equinovarus deformityHP:0008110
  • HemivertebraeHP:0002937
  • High palateHP:0000218
  • HydronephrosisHP:0000126
  • Lumbar scoliosisHP:0004626
  • PolymicrogyriaHP:0002126
  • SirenomeliaHP:0010497
  • Spina bifida occultaHP:0003298
  • StrabismusHP:0000486
  • ThrombocytosisHP:0001894