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Freeman-Sheldon Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

In 1938, Freeman and Sheldon described a syndrome characterized by a whistling face with a long philtrum, a puckered mouth, microstomia, H-shaped cutaneous dimpling on the chin, multiple joint contractures with camptodactyly, ulnar deviation of the fingers, bilateral talipes equinovarus, and kyphoscoliosis. Freeman-Sheldon syndrome (FSS) is the most severe of the distal arthrogryposes with the striking contractures of the orofacial muscles. The syndrome is also known as distal arthrogryposis (DA) type 2A, craniocarpotarsal dysplasia, or “whistling face” syndrome (Lev et al. 2000).

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2017). Freeman-Sheldon Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_98

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_98

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

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