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Brachydactyly type C

ORPHA:93384 · Malformation syndrome · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(5)

  • Aplasia/Hypoplasia of the 1st metacarpalHP:0010026
  • Pseudoepiphysis of the 2nd fingerHP:0009495
  • Short middle phalanx of fingerHP:0005819
  • Type C brachydactylyHP:0009373
  • Ulnar deviation of fingerHP:0009465

Frequent (79-30%)(5)

  • Abnormal fingernail morphologyHP:0001231
  • Complete duplication of distal phalanx of the thumbHP:0009606
  • Cone-shaped epiphysisHP:0010579
  • Short metatarsalHP:0010743
  • Stippling of the epiphysis of the distal phalanx of the thumbHP:0009684

Occasional (29-5%)(4)

  • Clinodactyly of the 5th fingerHP:0004209
  • Metatarsus valgusHP:0010508
  • Short statureHP:0004322
  • Symphalangism affecting the phalanges of the handHP:0009773