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Dermatosparaxis Ehlers-Danlos syndrome
ORPHA:1901 · Disease · Disorder
HPO 表現型（共 50 項）
Very frequent (99-80%)(18)
- Blue scleraeHP:0000592
- Bruising susceptibilityHP:0000978
- Excessive wrinkled skinHP:0007392
- Excessive wrinkling of palmar skinHP:0007605
- Fragile skinHP:0001030
- Gastroesophageal refluxHP:0002020
- Generalized joint hypermobilityHP:0002761
- HerniaHP:0100790
- Hiatus herniaHP:0002036
- Hyperextensible skinHP:0000974
- Joint dislocationHP:0001373
- Joint hypermobilityHP:0001382
- OsteoporosisHP:0000939
- Postnatal growth retardationHP:0008897
- Skin lacerationHP:6001125
- Subcutaneous hemorrhageHP:0001933
- Thin skinHP:0000963
- Umbilical herniaHP:0001537
Frequent (79-30%)(21)
- Abnormality of the dentitionHP:0000164
- Abnormally lax or hyperextensible skinHP:0008067
- AstigmatismHP:0000483
- Atrophic scarsHP:0001075
- Depressed nasal bridgeHP:0005280
- EpicanthusHP:0000286
- Gingival overgrowthHP:0000212
- HypertrichosisHP:0000998
- Large fontanellesHP:0000239
- Limb undergrowthHP:0009826
- Low-set earsHP:0000369
- MicrognathiaHP:0000347
- MyopiaHP:0000545
- Premature birthHP:0001622
- Premature rupture of membranesHP:0001788
- Recurrent fracturesHP:0002757
- ScoliosisHP:0002650
- Short footHP:0001773
- Short palmHP:0004279
- Soft, doughy skinHP:0001027
- StrabismusHP:0000486
Occasional (29-5%)(11)
- Congenital diaphragmatic herniaHP:0000776
- Dental crowdingHP:0000678
- Downslanted palpebral fissuresHP:0000494
- FatigueHP:0012378
- HirsutismHP:0001007
- HypodontiaHP:0000668
- Motor delayHP:0001270
- OsteopeniaHP:0000938
- ProptosisHP:0000520
- Rectal prolapseHP:0002035
- RetrognathiaHP:0000278