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Pectus excavatum-macrocephaly-dysplastic nails syndrome

ORPHA:2835 · Malformation syndrome · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(2)

  • Global developmental delayHP:0001263
  • Short statureHP:0004322

Frequent (79-30%)(2)

  • Broad foreheadHP:0000337
  • MacrocephalyHP:0000256

Occasional (29-5%)(11)

  • Abnormality of the faceHP:0000271
  • Depressed nasal bridgeHP:0005280
  • Hypoplasia of the zygomatic boneHP:0010669
  • Hypoplastic toenailsHP:0001800
  • HypotoniaHP:0001252
  • Malar flatteningHP:0000272
  • Nail dysplasiaHP:0002164
  • Pectus excavatumHP:0000767
  • Prominent foreheadHP:0011220
  • Prominent supraorbital ridgesHP:0000336
  • Short noseHP:0003196