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Arterial tortuosity syndrome
ORPHA:3342 · Malformation syndrome · Disorder
HPO 表現型（共 61 項）
Very frequent (99-80%)(7)
- Abnormal carotid artery morphologyHP:0005344
- Aortic aneurysmHP:0004942
- Aortic root aneurysmHP:0002616
- Arterial stenosisHP:0100545
- Congestive heart failureHP:0001635
- Telangiectasia of the skinHP:0100585
- Vascular dilatationHP:0002617
Frequent (79-30%)(14)
- Abnormal zygomatic bone morphologyHP:0010668
- Aortic dissectionHP:0002647
- CraniosynostosisHP:0001363
- FatigueHP:0012378
- Femoral herniaHP:0100541
- Hyperextensible skinHP:0000974
- HypertelorismHP:0000316
- Inguinal herniaHP:0000023
- Joint hypermobilityHP:0001382
- Long faceHP:0000276
- MacrotiaHP:0000400
- Median cleft palateHP:0009099
- Pulmonary artery stenosisHP:0004415
- Thin skinHP:0000963
Occasional (29-5%)(40)
- Abnormal myocardium morphologyHP:0001637
- ArachnodactylyHP:0001166
- Avascular necrosis of the capital femoral epiphysisHP:0005743
- BlepharophimosisHP:0000581
- Cardiac arrestHP:0001695
- Cardiorespiratory arrestHP:0006543
- Clinodactyly of the 5th fingerHP:0004209
- Coxa valgaHP:0002673
- Coxa varaHP:0002812
- Dilated cardiomyopathyHP:0001644
- DyspneaHP:0002094
- EsophagitisHP:0100633
- Gastroesophageal refluxHP:0002020
- Global developmental delayHP:0001263
- Hiatus herniaHP:0002036
- Hip dislocationHP:0002827
- Hip dysplasiaHP:0001385
- HypertensionHP:0000822
- Hypertrophic cardiomyopathyHP:0001639
- HypotoniaHP:0001252
- Intellectual disabilityHP:0001249
- KeratoconusHP:0000563
- KeratoglobusHP:0001119
- Long palmHP:0011302
- MacrocephalyHP:0000256
- Malar flatteningHP:0000272
- Myocardial infarctionHP:0001658
- MyocarditisHP:0012819
- MyopiaHP:0000545
- Prematurely aged appearanceHP:0007495
- Pyloric stenosisHP:0002021
- Redundant skinHP:0001582
- Respiratory distressHP:0002098
- Respiratory failureHP:0002878
- Rocker bottom footHP:0001838
- ScoliosisHP:0002650
- Short noseHP:0003196
- Short palpebral fissureHP:0012745
- Specific learning disabilityHP:0001328
- StrabismusHP:0000486