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Camptodactyly is a medical condition involving fixed flexion deformity of the proximal interphalangeal joints. This involves permanent flexure of one or more phalanges (fingers), and the fifth finger is always affected. Camptodactyly is an autosomal dominant trait that is known for its incomplete expressivity as it can occur in both hands, one, or neither. A linkage scan proposed that the chromosomal locus of camptodactyly was 3q11.2-q13.12.[1]
Etymology[edit]
The name is derived from the ancient Greek words kamptos (bent) and daktylos (finger).
Causes[edit]
The specific cause of camptodactyly remains unkown, but there are a few deficiencies that lead to the condition. A deficient lumbrical controlling the flexion of the fingers, and abnormalities of the flexor and extensor tendons.[2]
A number of congenital syndromes may also cause camptodactyly:
- Jacobsen syndrome
- 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
- Stuve-Wiedemann syndrome
- Loeys-Dietz syndrome
- Fryns syndrome[3]
- Marfan's syndrome[4]
- Carnio-carpo-tarsal dysthropy[5]
Pattern of Inheritance[edit]
The pattern of inheritance is determined by the phenotypic expression of a gene--which is called Expressivity.[6] Camptodactyly can be passed on through generations in various levels of phenotypic expression, which include both or only one hand. 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.[7]
Treatment[edit]
If a contracture is less than 30 degrees, it may not interfere with normal functioning.[8] The common treatment is splinting and occupational therapy.[9] Surgery is the last option for most cases as the result may not be satisfactory.[10]
References[edit]
- ^ Malik, Sajid (2008). ""Fifth finger camptodactyly maps to chromosome 3q11.2–q13.12 in a large German kindred."". European Journal of Human Genetics 2. 16 (2): 265–269. doi:10.1038/sj.ejhg.5201957. PMID 18000522. S2CID 13199103.
{{cite journal}}: Unknown parameter|coauthors=ignored (|author=suggested) (help) - ^ Kozin, Scott H. (2004). Hand Surgery. Lippincott Williams & Wilkins.
- ^ Young, I. D.; Simpson, K.; Winter, R. M. : A case of Fryns syndrome. J. Med. Genet. 23: 82-88, 1986. PubMed ID : 3950939
- ^ Metin Işık (2011). Turkish Journal of Physical Medicine and Rehabilitation http://www.ftrdergisi.com/tr/makale/1836/178/Tam-Metin. Retrieved 11/3/13.
{{cite journal}}: Check date values in:|accessdate=(help); Missing or empty|title=(help) - ^ Metin Işık (2011). Turkish Journal of Physical Medicine and Rehabilitation http://www.ftrdergisi.com/tr/makale/1836/178/Tam-Metin. Retrieved 11/3/13.
{{cite journal}}: Check date values in:|accessdate=(help); Missing or empty|title=(help) - ^ Cummings, Michael R. (2011). Human Heredity: Principles and Issues. Cengage Learning. pp. 87, 88.
- ^ Malik, Sajid (2008). ""Fifth finger camptodactyly maps to chromosome 3q11.2–q13.12 in a large German kindred."". European Journal of Human Genetics. 2.
{{cite journal}}: Unknown parameter|coauthors=ignored (|author=suggested) (help) - ^ Kozin, Scott H. (2004). Hand Surgery. Lippincott Williams & Wilkins.
- ^ http://childrenshospital.org/az/Site644/mainpageS644P4.html
- ^ http://congenitalhand.wustl.edu/2012/03/camptodactyly.html
External links[edit]
- http://www.childrenshospital.org/az/Site644/mainpageS644P0.html
- http://medind.nic.in/maa/t04/i3/maat04i3p227.pdf
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