← 返回搜尋

Deafness-epiphyseal dysplasia-short stature syndrome

ORPHA:3218 · Malformation syndrome · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(3)

  • Abnormal femoral epiphysis morphologyHP:0006499
  • Hearing impairmentHP:0000365
  • Short statureHP:0004322

Frequent (79-30%)(12)

  • Abnormal vertebral body morphologyHP:0003312
  • Global developmental delayHP:0001263
  • HyperlordosisHP:0003307
  • Inguinal herniaHP:0000023
  • Mild intellectual disabilityHP:0001256
  • MyopiaHP:0000545
  • Nasolacrimal duct obstructionHP:0000579
  • Pointed chinHP:0000307
  • Short neckHP:0000470
  • Short thoraxHP:0010306
  • Triangular faceHP:0000325
  • Umbilical herniaHP:0001537

Occasional (29-5%)(4)

  • Abnormal speech patternHP:0002167
  • BrachydactylyHP:0001156
  • Frontal bossingHP:0002007
  • Retinal detachmentHP:0000541