Freeman Sheldon syndrome

How is Freeman Sheldon syndrome diagnosed?

Freeman Sheldon syndrome may be suspected based on medical history and physical examination which reveal characteristic facial features. Imaging studies, such as CT scan and X-ray be be helpful to determine the presence and severity of features. Genetic testing may be useful to confirm a suspected diagnosis; however, not all individuals with Freeman Sheldon syndrome have a mutation in the MYH3 gene.

Last updated on 05-01-20

Name: FACES: The National Craniofacial Association PO Box 11082
Chattanooga, TN, 37401, United States
Phone: 423-266-1632 Toll Free: 800-332-2373 Email: faces@faces-cranio.org Url: http://www.faces-cranio.org/
Name: Arthrogryposis Multiplex Congenita Support Inc. P.O. Box 6291
Spartanburg, SC, 29304, United States
Phone: +1-805-552-6274 Toll Free: 1-805-55-AMCSI (1-805-552-6274) Email: bod@amcsupport.org Url: https://amcsupport.org
Name: Freeman-Sheldon Research Group, Inc. Url: http://www.fsrgroup.org/

Connect with other users with Freeman Sheldon syndrome on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App