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Spondylodysplastic Ehlers-Danlos syndrome

ORPHA:536471 · Disease · Disorder

HPO 表現型（共 105 項）

Very frequent (99-80%)(2)

  • Generalized joint hypermobilityHP:0002761
  • KyphoscoliosisHP:0002751

Frequent (79-30%)(33)

  • Abnormal facial shapeHP:0001999
  • Abnormal finger morphologyHP:0001167
  • Abnormal vertebral morphologyHP:0003468
  • Abnormality of the dentitionHP:0000164
  • Blue scleraeHP:0000592
  • Congenital kyphoscoliosisHP:0008453
  • Flat faceHP:0012368
  • Flexion contractureHP:0001371
  • Frontal bossingHP:0002007
  • Global developmental delayHP:0001263
  • Hip dysplasiaHP:0001385
  • Hyperextensible skinHP:0000974
  • HypertelorismHP:0000316
  • Hypoplastic iliaHP:0000946
  • HypotoniaHP:0001252
  • Increased susceptibility to fracturesHP:0002659
  • Joint dislocationHP:0001373
  • Joint hypermobilityHP:0001382
  • Low-set earsHP:0000369
  • Multiple joint contracturesHP:0002828
  • OsteopeniaHP:0000938
  • Pes planusHP:0001763
  • PlatyspondylyHP:0000926
  • Posteriorly rotated earsHP:0000358
  • ProptosisHP:0000520
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Slender long bones with narrow diaphysesHP:0004993
  • Soft skinHP:0000977
  • Soft, doughy skinHP:0001027
  • Talipes equinovarusHP:0001762
  • Thin skinHP:0000963
  • Triangular faceHP:0000325

Occasional (29-5%)(36)

  • Abnormal femoral head morphologyHP:0003368
  • Abnormal heart valve morphologyHP:0001654
  • Abnormality of the elbowHP:0009811
  • Anteverted naresHP:0000463
  • Atrophic scarsHP:0001075
  • Beaking of vertebral bodiesHP:0004568
  • Bowing of the long bonesHP:0006487
  • Broad foreheadHP:0000337
  • Cleft palateHP:0000175
  • Cutis laxaHP:0000973
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • Dysplasia of the femoral headHP:0010575
  • Elbow flexion contractureHP:0002987
  • Flared metaphysisHP:0003015
  • Flat capital femoral epiphysisHP:0003370
  • Generalized osteoporosisHP:0040160
  • Hearing impairmentHP:0000365
  • Hemifacial hypoplasiaHP:0011332
  • High hypermetropiaHP:0008499
  • Long philtrumHP:0000343
  • Long upper lipHP:0011341
  • Metaphyseal dysplasiaHP:0100255
  • Metaphyseal wideningHP:0003016
  • MicrognathiaHP:0000347
  • Motor delayHP:0001270
  • Narrow mouthHP:0000160
  • Radial head subluxationHP:0003048
  • Radioulnar synostosisHP:0002974
  • Respiratory insufficiencyHP:0002093
  • Short claviclesHP:0000894
  • Short femoral neckHP:0100864
  • Short noseHP:0003196
  • Single transverse palmar creaseHP:0000954
  • Sparse scalp hairHP:0002209
  • Talipes equinovalgusHP:0001772

Very rare (<4-1%)(34)

  • Abnormal right hemidiaphragm morphologyHP:0040047
  • Abnormality of the temporomandibular jointHP:0010754
  • Acetabular dysplasiaHP:0008807
  • Agenesis of pineal glandHP:0012687
  • Aortic valve stenosisHP:0001650
  • Ascending tubular aorta aneurysmHP:0004970
  • Atrial septal defectHP:0001631
  • Corneal opacityHP:0007957
  • Coronal cleft vertebraeHP:0003417
  • CryptorchidismHP:0000028
  • ExostosesHP:0100777
  • GlaucomaHP:0000501
  • Hallux valgusHP:0001822
  • HypogonadismHP:0000135
  • Inguinal herniaHP:0000023
  • Iris colobomaHP:0000612
  • LymphedemaHP:0001004
  • MegalocorneaHP:0000485
  • MyopiaHP:0000545
  • Numerous neviHP:0001054
  • Optic disc colobomaHP:0000588
  • Optic nerve hypoplasiaHP:0000609
  • Partial duplication of thumb phalanxHP:0009944
  • Patellar dislocationHP:0002999
  • Pectus carinatumHP:0000768
  • Posterior subcapsular cataractHP:0007787
  • Prominent scalp veinsHP:0001043
  • PtosisHP:0000508
  • Pulmonary hypoplasiaHP:0002089
  • Pulmonic stenosisHP:0001642
  • Restrictive ventilatory defectHP:0002091
  • Sagittal craniosynostosisHP:0004442
  • StrabismusHP:0000486
  • Subluxation of the small joints of the handHP:0004269