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Hutchinson-Gilford progeria syndrome
ORPHA:740 · Disease · Disorder
HPO 表現型（共 93 項）
Very frequent (99-80%)(12)
- Absence of subcutaneous fatHP:0007485
- Conductive hearing impairmentHP:0000405
- Generalized abnormality of skinHP:0011354
- MicrognathiaHP:0000347
- Narrow mouthHP:0000160
- Premature skin wrinklingHP:0100678
- Prominent superficial blood vesselsHP:0007394
- Prominent umbilicusHP:0001544
- Pubertal developmental failure in femalesHP:0008647
- Severe failure to thriveHP:0001525
- Thin vermilion borderHP:0000233
- Weight lossHP:0001824
Frequent (79-30%)(31)
- Abnormal aortic valve morphologyHP:0001646
- Abnormal mitral valve morphologyHP:0001633
- Abnormal nasal tip morphologyHP:0000436
- Abnormally high-pitched voiceHP:0001620
- Alopecia totalisHP:0007418
- AnkyloglossiaHP:0010296
- AtherosclerosisHP:0002621
- Coxa valgaHP:0002673
- Craniofacial disproportionHP:0005461
- Decreased serum leptinHP:0003292
- Delayed menarcheHP:0012569
- Dystrophic fingernailsHP:0008391
- Dystrophic toenailHP:0001810
- Exertional dyspneaHP:0002875
- Female hypogonadismHP:0000134
- High palateHP:0000218
- Hip dislocationHP:0002827
- Hypoplastic male external genitaliaHP:0000050
- Insulin resistanceHP:0000855
- Lack of skin elasticityHP:0100679
- Left ventricular diastolic dysfunctionHP:0025168
- Limitation of joint mobilityHP:0001376
- Low-frequency sensorineural hearing impairmentHP:0008573
- Narrow nasal ridgeHP:0000418
- Narrow nasal tipHP:0011832
- Patchy alopeciaHP:0002232
- Relative macrocephalyHP:0004482
- RetrognathiaHP:0000278
- Shallow orbitsHP:0000586
- Short lingual frenulumHP:0000200
- Shuffling gaitHP:0002362
Occasional (29-5%)(46)
- Abnormal thorax morphologyHP:0000765
- Absent eyebrowHP:0002223
- Aortic regurgitationHP:0001659
- Aortic valve calcificationHP:0004380
- Aortic valve stenosisHP:0001650
- Avascular necrosisHP:0010885
- Carotid artery occlusionHP:0012474
- Convex nasal ridgeHP:0000444
- Corneal opacityHP:0007957
- CyanosisHP:0000961
- Delayed eruption of teethHP:0000684
- Dental crowdingHP:0000678
- Dermal atrophyHP:0004334
- Ectopic calcificationHP:0010766
- High-frequency sensorineural hearing impairmentHP:0001757
- Hip painHP:0030838
- Hypermelanotic maculeHP:0001034
- HypertensionHP:0000822
- HypodontiaHP:0000668
- Impacted toothHP:0011079
- Intracranial hemorrhageHP:0002170
- Joint stiffnessHP:0001387
- Limitation of movement at anklesHP:0010505
- Limited hip movementHP:0008800
- Limited shoulder movementHP:0006467
- Limited wrist movementHP:0006248
- Loss of eyelashesHP:0011457
- Mitral regurgitationHP:0001653
- Mitral stenosisHP:0001718
- Mitral valve calcificationHP:0004382
- Myocardial infarctionHP:0001658
- Nocturnal lagophthalmosHP:0030002
- OsteoarthritisHP:0002758
- Osteolytic defects of the distal phalanges of the handHP:0009839
- PapuleHP:0200034
- Persistence of primary teethHP:0006335
- Progressive clavicular acroosteolysisHP:0000905
- Prominent ear helixHP:0009904
- Raynaud phenomenonHP:0030880
- Reduced bone mineral densityHP:0004349
- Short chinHP:0000331
- Short claviclesHP:0000894
- StrokeHP:0001297
- Transient ischemic attackHP:0002326
- Upper airway obstructionHP:0002781
- Ventricular hypertrophyHP:0001714
Very rare (<4-1%)(4)
- Angina pectorisHP:0001681
- Corneal ulcerationHP:0012804
- Left ventricular systolic dysfunctionHP:0025169
- Pulmonary arterial hypertensionHP:0002092