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Arachnodactyly
Other namesAchromachia
Bilateral arachnodactyly
Specialty Medical genetics  Edit this on Wikidata
ComplicationsNone
Usual onsetBirth
DurationLife-long
CausesMutations in the fibrillin-2 gene, in chromosome 5q23

Arachnodactyly ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. In some cases, the thumbs of an individual with the condition are pulled inwards towards the palm. This condition is present at birth.

Causes

This feature can occur on its own with no underlying health problems, or it can be associated with certain medical conditions, including Marfan syndrome, [1] Ehlers–Danlos syndromes, [2] Loeys–Dietz syndrome, and homocystinuria. [3] It is also seen in congenital contractural arachnodactyly, [4] which is caused by mutation in the gene encoding fibrillin-2 on chromosome 5q23. [5]

Notable cases

It remains unconfirmed whether composer Sergei Rachmaninoff's abnormally large reach on a piano was a result of arachnodactyly due to Marfan syndrome, as the pianist exhibited no other signs of the disease. [6]

It is also uncertain if blues guitarist and vocalist Robert Johnson's long fingers were due to Marfan syndrome.[ citation needed]

See also

References

  1. ^ Buntinx, I. M.; Willems, P. J.; Spitaels, S. E.; Van Reempst, P. J.; De Paepe, A. M.; Dumon, J. E. (April 1991). "Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency". Journal of Medical Genetics. 28 (4): 267–273. doi: 10.1136/jmg.28.4.267. ISSN  0022-2593. PMC  1016831. PMID  1856834.
  2. ^ Keer, Rosemary; Grahame, Rodney (2003-06-27). Hypermobility syndrome: Recognition and management for physiotherapists. Butterworth Heinemann. ISBN  978-0-7506-5390-9.[ permanent dead link]
  3. ^ Pagon, RA.; Bird, TC.; Dolan, CR.; Stephens, K.; Picker, JD.; Levy, HL. (1993). "Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency". PMID  20301697. {{ cite journal}}: Cite journal requires |journal= ( help)
  4. ^ Viljoen, D. (1994). "Congenital contractural arachnodactyly (Beals syndrome)". Journal of Medical Genetics. 31 (8): 640–643. doi: 10.1136/jmg.31.8.640. PMC  1050028. PMID  7815423.
  5. ^ Hecht, Frederick; Beals, Rodney K. (1972-04-01). ""New" Syndrome of Congenital Contractural Arachnodactyly Originally Described by Marfan in 1896". Pediatrics. 49 (4): 574–579. doi: 10.1542/peds.49.4.574. ISSN  0031-4005. PMID  4552107. S2CID  1846022.
  6. ^ "Forum - Search results for Rachmaninoff Marfan". Website of the Rachmaninoff Network. 7 September 2016. Retrieved 4 August 2020.[ permanent dead link]

External links