← 返回搜尋

Spondylometaphyseal dysplasia, Sedaghatian type

ORPHA:93317 · Malformation syndrome · Disorder

HPO 表現型（共 25 項）

Very frequent (99-80%)(15)

  • Abnormal rib morphologyHP:0000772
  • Abnormal scapula morphologyHP:0000782
  • ArrhythmiaHP:0011675
  • Atrioventricular blockHP:0001678
  • Cardiorespiratory arrestHP:0006543
  • Delayed skeletal maturationHP:0002750
  • Disproportionate short statureHP:0003498
  • Iliac crest serrationHP:0008786
  • Long fibulaHP:0003085
  • Metaphyseal chondrodysplasiaHP:0005871
  • PlatyspondylyHP:0000926
  • Rhizomelic arm shorteningHP:0004991
  • Short metacarpalHP:0010049
  • Short palmHP:0004279
  • Spondylometaphyseal dysplasiaHP:0002657

Frequent (79-30%)(5)

  • Cerebellar hypoplasiaHP:0001321
  • Generalized hypotoniaHP:0001290
  • Narrow chestHP:0000774
  • Respiratory insufficiencyHP:0002093
  • TurricephalyHP:0000262

Occasional (29-5%)(5)

  • Accelerated skeletal maturationHP:0005616
  • Agenesis of corpus callosumHP:0001274
  • Cone-shaped epiphysisHP:0010579
  • MyocarditisHP:0012819
  • PachygyriaHP:0001302