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Freeman–Sheldon syndrome

From Wikipedia
Freeman–Sheldon syndrome
rare disease, genetic disease, class of disease
Subclass ofdistal arthrogryposis Edit
Health specialtymedical genetics Edit
Genetic associationMYH3 Edit
NCI Thesaurus IDC98931 Edit

Freeman–Sheldon syndrome (FSS) be a very rare form of multiple congenital contracture (MCC) syndromes (arthrogryposes) wey be de most severe form of distal arthrogryposis (DA).[1][2] Na dem originally describe am by Ernest Arthur Freeman den Joseph Harold Sheldon insyd 1938.[3]

As of 2007, na dem report about 100 cases per insyd medical literature.[4]

Notable individuals

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Melissa Blake be a writer den disability advocate plus Freeman-Sheldon syndrome.[5]

References

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  1. ↑ Stevenson, DA; Carey JC; Palumbos J; Rutherford A; Dolcourt J; Bamshad MJ (March 2006). "Clinical characteristics and natural history of Freeman-Sheldon syndrome". Pediatrics. 117 (3): 754–62. doi:10.1542/peds.2005-1219. PMID 16510655. S2CID 7952828.
  2. ↑ Bamshad M, Jorde LB, Carey JC (November 1996). "A revised and extended classification of the distal arthrogryposes". Am. J. Med. Genet. 65 (4): 277–81. doi:10.1002/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M. PMID 8923935.
  3. ↑ Freeman, EA; Sheldon JH (1938). "Cranio-carpo-tarsal dystrophy: undescribed congenital malformation". Arch Dis Child. 13 (75): 277–83. doi:10.1136/adc.13.75.277. PMC 1975576. PMID 21032118.
  4. ↑ "Freeman Sheldon Syndrome". NORD (National Organization for Rare Disorders) (in American English). Retrieved 2019-09-12.
  5. ↑ Blake, Melissa (2024). Beautiful people: my thirteen truths about disability (in English). New York City: Hachette Go. ISBN 978-0-306-83042-6.
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