Freeman-Sheldon syndrome

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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 http://www.orphadata.org. Data version April 2024

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Freeman-Sheldon syndrome?

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