Camptodactyly Explained

Camptodactyly
Pronounce:kamp-to-dak-tee-lee
Field:Medical genetics
Symptoms:Permanent flexion of the proximal interphalangeal joints, although symptoms may vary in person; some people have very tight flexed fingers and other people have flexed fingers that straighten when pressed on [1]
Complications:People with severe camptodactyly may have difficulty holding objects
Onset:There are congenital forms, adolescent-onset forms and acquired forms [2]
Duration:Life-long
Treatment:Splinting, surgery, etc.
Frequency:1% of the world population [3] [4] [5]

Camptodactyly is a medical condition that causes one or more digits (fingers or toes) to be permanently bent. It involves fixed flexion deformity of the proximal interphalangeal joints.

Camptodactyly can be caused by a genetic disorder. In that case, it is an autosomal dominant trait that is known for its incomplete genetic expressivity. This means that when a person has the genes for it, the condition may appear in both hands, one, or neither. A linkage scan proposed that the chromosomal locus of camptodactyly was 3q11.2-q13.12.[6]

Causes

The specific cause of camptodactyly remains unknown, but there are a few deficiencies that lead to the condition. A deficient lumbrical muscle controlling the flexion of the fingers, and abnormalities of the flexor and extensor tendons.[7]

A number of congenital syndromes may also cause camptodactyly:

Genetics

The pattern of inheritance is determined by the phenotypic expression of a gene—which is called expressivity.[11] Camptodactyly can be passed on through generations in various levels of phenotypic expression, which include both or only one hand. This means that the genetic expressivity is incomplete. It can be inherited from either parent.

In most of its cases, camptodactyly occurs sporadically, but it has been found in several studies that it is inherited as an autosomal dominant condition.

Treatment

If a contracture is less than 30 degrees, it may not interfere with normal functioning. The common treatment is splinting and occupational therapy.[12] Surgery is the last option for most cases as the result may not be satisfactory.[13]

Etymology

The name is derived from the ancient Greek words καμπτός, kamptos (bent) and δάκτυλος, daktylos (finger).

See also

Notes and References

  1. Web site: Camptodactyly | Boston Children's Hospital. https://web.archive.org/web/20211116235335/https://www.childrenshospital.org/conditions-and-treatments/conditions/c/camptodactyly. 2021-11-16.
  2. Web site: Camptodactyly | Boston Children's Hospital. https://web.archive.org/web/20211116235335/https://www.childrenshospital.org/conditions-and-treatments/conditions/c/camptodactyly. 2021-11-16.
  3. Web site: Camptodactyly - Hand - Orthobullets. https://web.archive.org/web/20210804041645/https://www.orthobullets.com/hand/6074/camptodactyly. 2021-08-04.
  4. Web site: Camptodactyly. https://web.archive.org/web/20210621112335/https://www.chop.edu/conditions-diseases/camptodactyly. 2021-06-21. 18 November 2016.
  5. Ravishanker . R . Bath . AS . Distraction - A Minimally Invasive Technique for Treating Camptodactyly and Clinodactyly . Medical Journal, Armed Forces India . July 2004 . 60 . 3 . 227–230 . 10.1016/S0377-1237(04)80051-0 . 27407638 . 4923171 .
  6. Malik. Sajid. Schott. Jörg. Schiller. Julia. Junge. Anna. Baum. Erika. Koch. Manuela C.. February 2008. Fifth finger camptodactyly maps to chromosome 3q11.2–q13.12 in a large German kindred.. European Journal of Human Genetics. 16. 2. 265–9. 10.1038/sj.ejhg.5201957. 18000522. free.
  7. Book: Kozin, Scott H.. Hand Surgery. Lippincott Williams & Wilkins. 2004. 1st. 2013-12-05. https://web.archive.org/web/20150101191852/http://www.msdlatinamerica.com/ebooks/HandSurgery/sid1015056.html#R2-87. 2015-01-01. dead.
  8. Callewaert. Bert L.. Loeys. Bart L.. Ficcadenti. Anna. Vermeer. Sascha. Landgren. Magnus. Kroes. Hester Y.. Yaron. Yuval. Pope. Michael. Foulds. Nicola. Boute. Odile. Galán. Francisco. 3. March 2009. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature. Human Mutation. 30. 3. 334–41. 10.1002/humu.20854. 19006240. Nathalie. Julie. Kingston. Helen. Anne M.. De Paepe. Paul J.. Coucke. De Backer. Salcedo. Orazio. Gabrielli. Carina. Van Der Aa. Marielle E.. Swinkels. Iratxe. Wallgren-Pettersson. 25975581. free.
  9. Young. I. D.. Simpson. K.. Winter. R. M.. February 1986. A case of Fryns syndrome. Journal of Medical Genetics. 23. 1. 82–88. 10.1136/jmg.23.1.82. 1049547. 3950939. free.
  10. Işik . Metin . Doğan . İsmail . Kilinç . Levent . Çalgüneri̇ . Meral . Familial Peripheric Polyneuropathy Plus Camptodactyly; Three Sisters . Türkiye Fiziksel Tıp ve Rehabilitasyon Dergisi . 15 March 2012 . 58 . 1 . 72–74 . 10.4274/tftr.55477 . free .
  11. Book: Cummings, Michael R.. Human Heredity: Principles and Issues. Cengage Learning. 2011. 978-0538498821. Ninth. 87, 88. 2010922222. limited.
  12. Web site: Camptodactyly Treatments. 2013. Boston Children's Hospital. en. 2017-09-05. https://web.archive.org/web/20170905093911/http://www.childrenshospital.org/conditions-and-treatments/conditions/c/camptodactyly/treatments. 2017-09-05. dead.
  13. Web site: Goldfarb. Charles. 2012-03-27. Congenital Hand and Arm Differences. live. https://web.archive.org/web/20200815181556/http://congenitalhand.wustl.edu/2012/03/camptodactyly.html. 2020-08-15. 2017-09-05. Washington University in St. Louis.