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Terminal osseous dysplasia-pigmentary defects syndrome

ORPHA:88630 · Malformation syndrome · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(2)

  • Hyperpigmented papuleHP:0025473
  • Inclusion body fibromatosisHP:0025197

Frequent (79-30%)(5)

  • Accessory oral frenulumHP:0000191
  • AlopeciaHP:0001596
  • BrachydactylyHP:0001156
  • ClinodactylyHP:0030084
  • Flexion contractureHP:0001371

Occasional (29-5%)(14)

  • CamptodactylyHP:0012385
  • Depressed nasal tipHP:0000437
  • EpicanthusHP:0000286
  • HypertelorismHP:0000316
  • Hypoplasia of teethHP:0000685
  • Iris colobomaHP:0000612
  • Osteolysis involving bones of the lower limbsHP:0009139
  • Osteolysis involving bones of the upper limbsHP:0045039
  • Patent foramen ovaleHP:0001655
  • Preauricular pitHP:0004467
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Short thoraxHP:0010306
  • SyndactylyHP:0001159

Very rare (<4-1%)(2)

  • Mitral regurgitationHP:0001653
  • Restrictive cardiomyopathyHP:0001723