Freeman-Sheldon syndrome Detailed Information

Freeman-sheldon syndrome is characterized by multiple contractures (i.e., restricted faction 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. Craniofacial abnormalities may consist of characteristic facial features that cause the individual to show to be whistling. These features include a very little puckered mouth (microstomia); a "full" forehead appearance; oddly prominent cheeks; and thin, pursed lips.

Affected newborns may also have an uncommonly plane middle portion of the face, a high top of the mouth (palate), an unusually little jaw (micrognathia), an abnormally little tongue (microglossia), and/or a raised, scar-like mark in the shape of an "H" or a "V" extending from the lower lip to the chin. Affected infants frequently have abnormalities affecting the eyes including widely-spaced deep-set eyes, crossed eyes (strabismus), and/or downslanting eyelid folds (palpebral fissures). Malformations of the hands and feet are also characteristic of Freeman-Sheldon syndrome.

On some occasions it has been related with club feet or similar deformities in the feet. Children with Freeman-Sheldon syndrome may also reveal speech impairment; swallowing and eating difficulties; vomiting; failure to raise and gain weight at the expected rate (failure to thrive); and/or respiratory problems that may result in life-threatening complications. The mouth is small, with tight, pursed lips that look the person is attempting to whistle. This can make feeding more difficult, and can pose a choking risk if the obstruction cannot be simply removed.

Additional signs and symptoms involve: talipes equinovarus, camptodactyly, scoliosis, abnormalities of the muscles of the eye, microstomia, high-arched palate, attenuated movement of the muscles of facial expression and various other primary anomalies involving the musculoskeletal system. There is several treatment of Freeman-Sheldon Syndrome. Orthopedic or plastic surgery to correct the hands, feet, and/or mouth. Craniofacial surgery to reshape the frontal bone and increase eyelid openings. Physical therapy to improve hand function. Physical therapy to improve the ability to walk Speech therapy also helpful this genetic condition.