Freeman-Sheldon syndrome (FSS), also known as Whistling face syndrome, is a rare congenital disorder characterised by dysmorphic status combining bone anomalies and joint contractures with typical facies. FSS is part of the nosologic group of distal arthrogryposis. The three basic abnormalities are microstomia with pouting lips, camptodactyly with ulnar deviation of the hand and talipes equinovarus. The phenotype of FSS includes also scoliosis, H-shaped dimpling of the chin, deep nasolabial folds, and blepharophimosis. Dysphagia, failure to thrive, growth deficit, and life-threatening respiratory complications (caused by structural anomalies of the oropharynx and upper airways) are frequent. By 1990, 65 cases had been reported in the literature. Both sexes are affected equally. Most reported cases of FSS occur sporadically with no family history of the disease, though there are reports of a specific pattern of either autosomal dominant or autosomal recessive inheritance. The etiology remains unknown. Ultrasonographic evaluation (revealing abnormalities of the extremities and mouth) may be useful for prenatal diagnosis. Due to the clinical variability and rarity of FSS, there is no standard management protocol. Surgical correction of microstomia is important from an aesthetic and functional point of view. Multiple, extensive orthopedic and plastic reconstructive surgery is often required.
Last update: March 2005