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Freeman-Sheldon Syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Freeman-Sheldon Syndrome is also known as whistling face syndrome and craniocarpal tarsal dystrophy. It is inherited in an autosomal dominant manner.

Clinically, there is a masklike face with a small mouth. This gives a 'whistling' appearance. Other facial features include:

  • eyes:
    • retruded
    • epicanthal folds
    • strabismus
  • nose:
    • small
    • broad nasal bridge
  • oral cavity:
    • high arched palate
    • small tongue
  • dimpling of skin on chin

Non-facial features include:

  • arthrogrypotic flexion contractures of the fingers and toes
  • equinovarus feet
  • kyphosis
  • scoliosis

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