Freeman-Sheldon syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Freeman-Sheldon syndrome

Synonyms: Craniocarpotarsal dysplasia | Craniocarpotarsal dystrophy | Distal arthrogryposis type 2A | Freeman-Burian syndrome | Whistling face syndrome

A rare congenital distal arthogryposis syndrome characterized by microstomia whistling-face appearance Chin with V- or H- shaped creased and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

Newly diagnosed with
Freeman-Sheldon syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.