An autosomal dominant craniofacial dystosis that is phenotypically similar to Distal Arthrogryposis Type 1 (OMIM: 108120). In addition to CONTRACTURES of the hands and feet, it is characterized by oropharyngeal abnormalities, SCOLIOSIS, and a distinctive FACIES that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' Mutations in the MYH3 gene have been identified. OMIM: 193700
Also Known As:
Arthrogryposis, Distal, Type 2A; Craniocarpotarsal Dysplasia; Craniocarpotarsal dystrophy; Distal Arthrogryposis, Type 2A; Whistling Face Syndrome; Whistling Face-Windmill Vane Hand Syndrome