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Melnick-Needles syndrome

ORPHA:2484 · Malformation syndrome · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(11)

  • Abnormal cortical bone morphologyHP:0003103
  • Abnormal metaphysis morphologyHP:0000944
  • Bowing of the long bonesHP:0006487
  • Delayed cranial suture closureHP:0000270
  • HypertelorismHP:0000316
  • MicrognathiaHP:0000347
  • Narrow chestHP:0000774
  • Prominent supraorbital ridgesHP:0000336
  • ProptosisHP:0000520
  • Short statureHP:0004322
  • Short thoraxHP:0010306

Frequent (79-30%)(22)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormal pubic bone morphologyHP:0003172
  • Abnormal rib morphologyHP:0000772
  • AnisospondylyHP:0002879
  • Cone-shaped epiphyses of the phalanges of the handHP:0010230
  • Coxa valgaHP:0002673
  • Craniofacial hyperostosisHP:0004493
  • Delayed eruption of teethHP:0000684
  • Facial asymmetryHP:0000324
  • Frontal bossingHP:0002007
  • Full cheeksHP:0000293
  • Hearing impairmentHP:0000365
  • Hip dislocationHP:0002827
  • HydronephrosisHP:0000126
  • Joint hypermobilityHP:0001382
  • Osteolytic defects of the phalanges of the handHP:0009771
  • Recurrent respiratory infectionsHP:0002205
  • ScoliosisHP:0002650
  • Short claviclesHP:0000894
  • Short distal phalanx of fingerHP:0009882
  • Tooth malpositionHP:0000692
  • Vesicoureteral refluxHP:0000076

Occasional (29-5%)(2)

  • OmphaloceleHP:0001539
  • Respiratory insufficiencyHP:0002093