Freeman–Sheldon Syndrome

Abstract

Freeman–Sheldon syndrome is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and an H-shaped dimple of the chin (“whistling face syndrome”). Microstoma and long philtrum are frequently found. Other facial features such as a small nose with bulbous tip and small alae nasi, deep-set eyes, micrognathia, and a short and broad neck are less consistent findings. Strabismus, epicanthal folds, ptosis, downward slanting palpebral fissures, and hypertelorism have been documented. The hard palate is often highly arched, and the mandible and tongue appear to be small. Short stature is usually present. Flexion contractures of the fingers with ulnar deviation and contractures of the metacarpophalangeal joints of the thumbs are characteristic. Talipes equinovarus and kyphoscoliosis have been observed in the majority of affected individuals. Limited movement at the hips, elbows, and other joints as well as the neck has been noted. Hypoplastic muscles of the forearm and shank have been frequently documented. Tube feeding is necessary in most affected infants. Anesthetic problems such as muscle rigidity and malignant hyperthermia have been reported, and 30 % of affected individuals have hearing loss.