Medicine:Camptodactyly
| Camptodactyly | |
|---|---|
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| Pronunciation |
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| Specialty | 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 |
| Usual 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 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:
- Jacobsen syndrome
- Beals syndrome[8]
- Blau syndrome
- Freeman–Sheldon syndrome
- Cerebrohepatorenal syndrome
- Weaver syndrome
- Christian syndrome 1
- Gordon syndrome
- Jacobs arthropathy-camptodactyly syndrome
- Lenz microphthalmia syndrome
- Marshall–Smith–Weaver syndrome
- Oculo-dento-digital syndrome
- Tel Hashomer camptodactyly syndrome
- Toriello–Carey syndrome
- Trisomy 13
- Stuve–Wiedemann syndrome
- Loeys–Dietz syndrome
- Fetal alcohol syndrome
- Fryns syndrome[9]
- Marfan syndrome[10]
- Carnio-carpo-tarsal dystrophy[10]
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.[6]
Treatment
If a contracture is less than 30 degrees, it may not interfere with normal functioning.[7] 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 kamptos (bent) and daktylos (finger).
See also
- Clinodactyly
References
- ↑ "Camptodactyly | Boston Children's Hospital". https://www.childrenshospital.org/conditions-and-treatments/conditions/c/camptodactyly.
- ↑ "Camptodactyly | Boston Children's Hospital". https://www.childrenshospital.org/conditions-and-treatments/conditions/c/camptodactyly.
- ↑ "Camptodactyly - Hand - Orthobullets". https://www.orthobullets.com/hand/6074/camptodactyly.
- ↑ "Camptodactyly". 18 November 2016. https://www.chop.edu/conditions-diseases/camptodactyly.
- ↑ Ravishanker, R; Bath, AS (July 2004). "Distraction - A Minimally Invasive Technique for Treating Camptodactyly and Clinodactyly". Medical Journal, Armed Forces India 60 (3): 227–230. doi:10.1016/S0377-1237(04)80051-0. PMID 27407638.
- ↑ 6.0 6.1 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. doi:10.1038/sj.ejhg.5201957. PMID 18000522.
- ↑ 7.0 7.1 Kozin, Scott H. (2004). Hand Surgery (1st ed.). Lippincott Williams & Wilkins. http://www.msdlatinamerica.com/ebooks/HandSurgery/sid1015056.html#R2-87. Retrieved 2013-12-05.
- ↑ Callewaert, Bert L.; Loeys, Bart L.; Ficcadenti, Anna et al. (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. doi:10.1002/humu.20854. PMID 19006240.
- ↑ Young, I. D.; Simpson, K.; Winter, R. M. (February 1986). "A case of Fryns syndrome". Journal of Medical Genetics 23 (1): 82–88. doi:10.1136/jmg.23.1.82. PMID 3950939.
- ↑ 10.0 10.1 Işik, Metin; Doğan, İsmail; Kilinç, Levent; Çalgüneri̇, Meral (15 March 2012). "Familial Peripheric Polyneuropathy Plus Camptodactyly; Three Sisters". Türkiye Fiziksel Tıp ve Rehabilitasyon Dergisi 58 (1): 72–74. doi:10.4274/tftr.55477.
- ↑ Cummings, Michael R. (2011). Human Heredity: Principles and Issues (Ninth ed.). Cengage Learning. pp. 87, 88. ISBN 978-0538498821. https://archive.org/details/humanhereditypri00cumm_534.
- ↑ "Camptodactyly Treatments" (in en). 2013. http://www.childrenshospital.org/conditions-and-treatments/conditions/c/camptodactyly/treatments.
- ↑ Goldfarb, Charles (2012-03-27). "Congenital Hand and Arm Differences". Washington University in St. Louis. http://congenitalhand.wustl.edu/2012/03/camptodactyly.html.
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