MeSH Browser

MeSH Supplementary: Freeman-Sheldon syndrome
Unique ID: C535483
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535483
Entry Term(s): Arthrogryposis, Distal, Type 2A; Craniocarpotarsal Dysplasia; Craniocarpotarsal dystrophy; Distal Arthrogryposis, Type 2A; Whistling Face Syndrome; Whistling Face-Windmill Vane Hand Syndrome
Registry Number: 0
Heading Mapped to: *Craniofacial Dysostosis
Frequency: 47
Note: 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
Date of Entry: 2010/08/25
Revision Date: 2015/09/26

Freeman-Sheldon syndrome MeSH Supplementary Concept Data 2024