Freeman-Burian syndrome (FBS) is a congenital myopathic craniofacial syndrome, with extra-craniofacial features in most cases. Genotype-correlated clinical diagnostic criteria for FBS include: microstomia, whistling face appearance (pursed lips), H or V-shaped chin defect, prominent nasolabial folds, and multiple contractures of the hands and feet. Limb malformations accepted in the diagnostic criteria for FBS include two or more of the following: talipes equinovarus, metatarsus varus, vertical talus, talipes equinovalgus, calcaneovalgus, camptodactyly, ulnar deviation of wrists and fingers, overlapping fingers or toes, and hypoplastic or absent interphalangeal creases. Spinal deformities, metabolic and gastroenterological problems, other craniofacial malformations, and visual and auditory impairments are frequent findings in FBS. Some individuals present with minimal malformation; rarely patients have died during infancy as a result of severe respiratory complications. Autosomal dominant inheritance is established, but expression is often from new allelic variation. There is no apparent sex, ethnic, or geographical preference, and environmental and parental factors are not implicated in pathogenesis.