Freeman Sheldon Syndrome

Cranio-Carpal-Tarsal Dystrophy, Craniocarpotarsal Dysplasia


Type of disease: Rare conditions

Freeman Sheldon syndrome is an inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations.  Freeman-Sheldon syndrome can be inherited as an autosomal dominant or autosomal recessive genetic trait. However, most cases occur randomly with no apparent cause (sporadically).
Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

Connect. Empower. Inspire.