Poland Syndrome - Clinical Features

Clinical Features

Very frequent signs

  • Abnormal gastrointestinal tract
  • Absent pectoral muscles
  • Brachydactyly (Short fingers)
  • Dextrocardia
  • Diaphragmatic hernia/defect
  • Humerus absent/abnormal
  • Liver/biliary tract anomalies
  • Maternal diabetes
  • Oligodactyly/missing fingers
  • Radius absent/abnormal
  • Rhizomelic micromelia (relatively shorter proximal segment of the limbs compared to the middle and the distal segments)
  • Syndactyly of fingers (webbing)
  • Ulna absent/abnormal
  • Upper limb asymmetry
  • Abnormal rib
  • Simian crease on affected side

Frequent signs

  • Hypoplastic/absent nipples
  • Scapula anomaly

Occasional signs

  • Agenesis/hypoplasia of kidneys
  • Encephalocele/exencephaly
  • Abnormal morphology of hypothalamic-hypophyseal axis
  • Abnormal function of hypothalamic-hypophyseal axis
  • Microcephaly
  • Preaxial polydactyly
  • Ureteric anomalies (reflux/duplex system)
  • Vertebral segmentation anomaly

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