Arachnodactyly Explained
Arachnodactyly |
Synonyms: | Achromachia |
Complications: | None |
Onset: | Birth |
Duration: | Life-long |
Causes: | Mutations 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]
See also
Notes and References
- 1856834. April 1991. Buntinx . I. M.. Willems . P. J.. Spitaels . S. E.. Van Reempst . P. J.. De Paepe . A. M.. Dumon . J. E.. Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency. 28. 4. 267–273. 0022-2593. 1016831. Journal of Medical Genetics. 10.1136/jmg.28.4.267.
- Book: Hypermobility syndrome: Recognition and management for physiotherapists . 978-0-7506-5390-9 . Keer . Rosemary . Grahame . Rodney . 2003-06-27 . Butterworth Heinemann .
- Web site: Pagon . RA. . Bird . TC. . Dolan . CR. . Stephens . K. . Picker . JD. . Levy . HL. . Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency . 1993. 20301697 .
- Viljoen . D. . 1994 . Congenital contractural arachnodactyly (Beals syndrome) . Journal of Medical Genetics . 31 . 8 . 640–643 . 10.1136/jmg.31.8.640 . 1050028 . 7815423.
- Hecht . Frederick . Beals . Rodney K. . "New" Syndrome of Congenital Contractural Arachnodactyly Originally Described by Marfan in 1896 . 1972-04-01 . Pediatrics . 49 . 4 . 574–579 . 10.1542/peds.49.4.574 . 4552107 . 1846022 . 0031-4005 . 2022-03-17 . 2023-02-22 . https://web.archive.org/web/20230222225944/https://publications.aap.org/pediatrics/article-abstract/49/4/574/47115/NEW-SYNDROME-OF-CONGENITAL-CONTRACTURAL?redirectedFrom=fulltext%3Fautologincheck%3Dredirected . live .
- Web site: Forum - Search results for Rachmaninoff Marfan . 7 September 2016 . Website of the Rachmaninoff Network . 4 August 2020 .