Multiple pterygium syndrome

Multiple pterygium syndrome encompasses a number of condition which are characterised by:

• musculoskeletal findings:
  • winglike soft tissue banding across joints
  • often multiple joints affected
  • joints display features of arthrogryposis or flexion contractures
  • in popliteal pterygium syndrome, pterygium runs from behind the knee down to the heel
  • pterygium cubitale describes a form of the disease with webbing around the elbow
  • in the neck there may be cervical vertebral anomalies or webbing
• facial findings:
  • dysmorphic facies
  • often relatively inanimate
  • cleft palate with or without cleft lip
  • lower lip pits; on a spectrum with Van der Woude's Syndrome and share a similar genetic pathology
  • fibrous bands in mouth
• genital findings:
  • hypoplasia of labia majora
  • malformed scrotum
  • cryptochidism

It is associated with malignant hyperthermia. Typically the condition is autosomal dominant, but an autosomal recessive form exists in which there is an infantile death with hydrops, cystic hygroma, multiple flexion contractures and hypoplastic lungs. The underlying genetic defect rests with a mutation in the gene for interferon regulatory factor 6.