Freeman-Sheldon Syndrome
Last reviewed 01/2018
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