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B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

ORPHA:536467 · Clinical subtype · Subtype of disorder

HPO 表現型（共 83 項）

Very frequent (99-80%)(19)

  • Acetabular dysplasiaHP:0008807
  • Bowing of the long bonesHP:0006487
  • Dysplasia of the femoral headHP:0010575
  • Frontal bossingHP:0002007
  • Joint hypermobilityHP:0001382
  • KyphoscoliosisHP:0002751
  • Large joint dislocationsHP:0005008
  • Low-set earsHP:0000369
  • Metaphyseal wideningHP:0003016
  • Midface retrusionHP:0011800
  • Multiple joint contracturesHP:0002828
  • Multiple joint dislocationHP:0012095
  • OsteopeniaHP:0000938
  • Posteriorly rotated earsHP:0000358
  • Postnatal growth retardationHP:0008897
  • Recurrent fracturesHP:0002757
  • Slender long bones with narrow diaphysesHP:0004993
  • Soft, doughy skinHP:0001027
  • Spondyloepimetaphyseal dysplasiaHP:0002651

Frequent (79-30%)(28)

  • Adducted thumbHP:0001181
  • Anteverted naresHP:0000463
  • ArachnodactylyHP:0001166
  • Atrophic scarsHP:0001075
  • Beaking of vertebral bodiesHP:0004568
  • Blue scleraeHP:0000592
  • Bruising susceptibilityHP:0000978
  • Cervical spine instabilityHP:0010646
  • Depressed nasal bridgeHP:0005280
  • Dermal translucencyHP:0010648
  • Hallux valgusHP:0001822
  • High palateHP:0000218
  • Hip dysplasiaHP:0001385
  • HydrocephalusHP:0000238
  • Hyperextensible skinHP:0000974
  • HypotoniaHP:0001252
  • Long philtrumHP:0000343
  • MicrodontiaHP:0000691
  • MicrognathiaHP:0000347
  • Motor delayHP:0001270
  • Neonatal hypotoniaHP:0001319
  • OsteoporosisHP:0000939
  • Ovoid vertebral bodiesHP:0003300
  • Phalangeal dislocationHP:0006243
  • ProptosisHP:0000520
  • Short noseHP:0003196
  • Talipes equinovarusHP:0001762
  • Thin skinHP:0000963

Occasional (29-5%)(36)

  • Anterior atlanto-occipital dislocationHP:0005678
  • Aortic root aneurysmHP:0002616
  • Ascending tubular aorta aneurysmHP:0004970
  • AtelectasisHP:0100750
  • Atlantoaxial dislocationHP:0003414
  • Basilar invaginationHP:0012366
  • Carious teethHP:0000670
  • Congenital kyphoscoliosisHP:0008453
  • CraniosynostosisHP:0001363
  • Delayed speech and language developmentHP:0000750
  • Dentinogenesis imperfectaHP:0000703
  • GlaucomaHP:0000501
  • Hypoplastic iliaHP:0000946
  • MicrocorneaHP:0000482
  • Mitral valve prolapseHP:0001634
  • Mixed hearing impairmentHP:0000410
  • MyopiaHP:0000545
  • OligohydramniosHP:0001562
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767
  • Peripapillary atrophyHP:0500087
  • PlagiocephalyHP:0001357
  • PlatyspondylyHP:0000926
  • Pulmonary hypoplasiaHP:0002089
  • Radioulnar synostosisHP:0002974
  • Renal neoplasmHP:0009726
  • Repeated pneumothoracesHP:0006522
  • Respiratory distressHP:0002098
  • Respiratory insufficiencyHP:0002093
  • Restrictive ventilatory defectHP:0002091
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • StrokeHP:0001297
  • Thoracic aortic aneurysmHP:0012727
  • TorticollisHP:0000473
  • TracheomalaciaHP:0002779