Freeman-Sheldon syndrome, abbreviated FSS, is a very rare form of the multiple congenital contracture syndromes, also called arthrogryposes, and is the most severe form of distal arthrogryposis. It was originally described by Ernest Arthur Freeman and Joseph Harold Sheldon in 1938. By 2007 only about one hundred cases had been reported in the medical literature. The syndrome is named for the two physicians who first described it, and the source lead gives no further detail, so causes, features and treatment are left to later depth work.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable First Described Prevalence Band Causative Agent
Causative Agent (category) Sources
1. Orphadata (Orphanet): Orphadata cross-references, ORPHAcode 2053
Orphadata (Orphanet)Orphanet cross-reference to ICD-10, chapter derived from the codeQuote, Orphanet cross-reference to ICD-10, chapter derived from the code
"Reference": "Q87.0", "Source": "ICD-10"
2. National Cancer Institute (NCI Thesaurus): Freeman-Sheldon syndrome - NCI Thesaurus concept C98931
National Cancer Institute (NCI Thesaurus)DefinitionQuote, Definition
A rare syndrome that is inherited in an autosomal dominant or recessive pattern and caused by mutations in the MYH3 gene.
3. Freeman-Sheldon syndrome (Wikipedia)
Lead paragraphQuote, Lead paragraph
It was originally described by Ernest Arthur Freeman and Joseph Harold Sheldon in 1938.
4. Orphadata (Orphanet): Orphadata epidemiology, ORPHAcode 2053
Orphadata (Orphanet)Orphanet epidemiology, ORPHAcode 2053Quote, Orphanet epidemiology, ORPHAcode 2053
"PrevalenceClass": "\u003c1 / 1 000 000", "PrevalenceGeographic": "Worldwide", "PrevalenceQualification": "Class only", "PrevalenceType": "Point prevalence"
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