Catalog

Freeman-Sheldon syndrome

No MMS code

Link to WHO Definition

Freeman-Sheldon syndrome – http://id.who.int/icd/entity/1314169421

Freeman-Sheldon syndrome is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is observed in this condition, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips), H or V-shaped chin defect, and prominent nasolabial folds. Some patients do not have limb malformations, but most do, typically manifested by camptodactyly with ulnar deviation of the hand and talipes equinovarus.