Freeman-Sheldon syndrome

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

Ulnar deviation of finger

Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.


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(per page)
PMID (PMCID)
8882790
MIXED_SAMPLE Infant
Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss.
Zampino G, Conti G, Balducci F, Moschini M, Macchiaiolo M, Mastroiacovo P.
Am J Med Genet. 1996;62(3):293-6.
We describe a child with whistling face and multiple contractures, including ulnar deviation of fingers, compatible with a diagnosis of Freeman-Sheldon syndrome (FSS).