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Freeman–Sheldon syndrome

From Wikipedia
Freeman–Sheldon syndrome
rare disease, type of disease
Subclass ofdistal arthrogryposis Edit
Health specialtymedical genetics Edit
Genetic associationMYH3 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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