Arachnodactyly
| Arachnodactyly | |
|---|---|
| Other names | Achromachia |
 | |
| Bilateral arachnodactyly | |
| Specialty | Medical genetics  |
| Complications | None |
| Usual onset | Birth |
| Duration | Life-long |
| Causes | Mutations in the fibrillin-2 gene, in chromosome 5q23, or the fibrillin-1 gene, at chromosome 15q21.1 |
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
[edit]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
[edit]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]
See also
[edit]References
[edit]- ^ 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.
- ^ Keer, Rosemary; Grahame, Rodney (2003-06-27). Hypermobility syndrome: Recognition and management for physiotherapists. Butterworth Heinemann. ISBN 978-0-7506-5390-9.
- ^ Pagon, RA.; Bird, TC.; Dolan, CR.; Stephens, K.; Picker, JD.; Levy, HL. (1993). "Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency". PMID 20301697.
- ^ 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.
- ^ 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. Archived from the original on 2023-02-22. Retrieved 2022-03-17.
- ^ "Forum - Search results for Rachmaninoff Marfan". Website of the Rachmaninoff Network. 7 September 2016. Retrieved 4 August 2020.[permanent dead link]
External links
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