Freeman-Sheldon syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 http://www.orphadata.org. Data version July 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

Association Aux Pas du Coeur – Côte d’ivoire

Our organization wants to raise awareness and recognition of rare diseases in Ivory Coast. Our mission is to: Raise awareness and campaign to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession to be able to make a final diagnosis and ensure continuous monitoring of patients easily.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Don't see your organization here. Let us know here.

Clinical Trials

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