How is Freeman-Sheldon syndrome differentiated from arthrogryposis multiplex congenita (AMC)?

Updated: Jan 03, 2019
  • Author: Mithilesh K Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK); Chief Editor: Maria Descartes, MD  more...
  • Print
Answer

Freeman-Sheldon syndrome (OMIM 193700)

This is also known as whistling face syndrome and is an autosomal dominant disorder. It is characterized by a masklike face with a small mouth, giving a whistling face appearance; deep-set eyes; small nose with a broad nasal bridge; epicanthal folds; strabismus; high arched palate; small tongue; an H-shaped cutaneous dimpling on the chin; flexion of fingers; equinovarus feet with contracted toes; kyphosis; scoliosis; and other anomalies. [23]


Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!