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Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome

ORPHA:163649 · Disease · Disorder

HPO 表現型（共 41 項）

Very frequent (99-80%)(28)

  • Abnormal bone ossificationHP:0011849
  • Abnormal femoral neck/head morphologyHP:0003366
  • Abnormal skull base morphologyHP:0002693
  • Anterior plagiocephalyHP:0011326
  • Anteverted naresHP:0000463
  • BrachycephalyHP:0000248
  • CataractHP:0000518
  • Coxa valgaHP:0002673
  • Delayed patellar ossificationHP:0006454
  • Depressed nasal bridgeHP:0005280
  • Downturned corners of mouthHP:0002714
  • EpicanthusHP:0000286
  • Flat acetabular roofHP:0003180
  • Flattened epiphysisHP:0003071
  • Global developmental delayHP:0001263
  • HypertelorismHP:0000316
  • Increased bone mineral densityHP:0011001
  • Long palpebral fissureHP:0000637
  • Long philtrumHP:0000343
  • Narrow chestHP:0000774
  • Ovoid vertebral bodiesHP:0003300
  • PlatyspondylyHP:0000926
  • Short neckHP:0000470
  • Short noseHP:0003196
  • Slender fingerHP:0001238
  • Thoracic kyphosisHP:0002942
  • Wide anterior fontanelHP:0000260
  • Wide proximal femoral metaphysisHP:0008783

Frequent (79-30%)(5)

  • Abnormality of cranial suturesHP:0011329
  • Frontal bossingHP:0002007
  • Fundus hypopigmentationHP:0007894
  • Hemiatrophy of upper limbHP:0100558
  • MicrognathiaHP:0000347

Occasional (29-5%)(8)

  • Abnormality of the elbowHP:0009811
  • AnisospondylyHP:0002879
  • Cleft palateHP:0000175
  • High palateHP:0000218
  • MicrophthalmiaHP:0000568
  • MyopiaHP:0000545
  • OligosacchariduriaHP:0010471
  • Retinal detachmentHP:0000541