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Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome

ORPHA:166024 · Disease · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(15)

  • Abnormality of the skeletal systemHP:0000924
  • ClinodactylyHP:0030084
  • Delayed epiphyseal ossificationHP:0002663
  • Enlarged jointsHP:0003037
  • Frontal bossingHP:0002007
  • Genu valgumHP:0002857
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • MacrocephalyHP:0000256
  • Molar tooth sign on MRIHP:0002419
  • Multiple epiphyseal dysplasiaHP:0002654
  • Pectus excavatumHP:0000767
  • Spindle-shaped fingerHP:0031092
  • Triangular mouthHP:0000207
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(4)

  • Agenesis of corpus callosumHP:0001274
  • ArthralgiaHP:0002829
  • Hypoplasia of the corpus callosumHP:0002079
  • Short statureHP:0004322

Occasional (29-5%)(2)

  • Cerebral atrophyHP:0002059
  • Cutaneous syndactylyHP:0012725

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

  • Abnormal vertebral morphologyHP:0003468