This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages before signing in

Freeman-Sheldon Syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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

Related pages

Create an account to add page annotations

Create a free account

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.