Camptodactyly

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Camptodactyly
Classification and external resources
ICD-10Q68.1
ICD-9755.59
OMIM114200
DiseasesDB30760
 
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Camptodactyly
Classification and external resources
ICD-10Q68.1
ICD-9755.59
OMIM114200
DiseasesDB30760

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 unknown, 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:

Pattern of Inheritance[edit]

Example of a pedigree of Camptodactyly inheritance

The pattern of inheritance is determined by the phenotypic expression of a gene--which is called Expressivity.[5] 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.[6]

Treatment[edit]

Splint
Splint for the left little finger of a 7 years-old child.

If a contracture is less than 30 degrees, it may not interfere with normal functioning.[2] The common treatment is splinting and occupational therapy.[7] Surgery is the last option for most cases as the result may not be satisfactory.[8]

References[edit]

  1. ^ Malik, Sajid; Jörg Schott, Julia Schiller, Anna Junge, Erika Baum, and Manuela C Koch. (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. doi:10.1038/sj.ejhg.5201957. 
  2. ^ a b Kozin, Scott H. (2004). Hand Surgery. Lippincott Williams & Wilkins. 
  3. ^ Young, I. D.; Simpson, K.; Winter, R. M. : A case of Fryns syndrome. J. Med. Genet. 23: 82-88, 1986. PubMed ID : 3950939
  4. ^ a b Metin Işık (2011). Turkish Journal of Physical Medicine and Rehabilitation http://www.ftrdergisi.com/tr/makale/1836/178/Tam-Metin |url= missing title (help). Retrieved 11/3/13. 
  5. ^ Cummings, Michael R. (2011). Human Heredity: Principles and Issues. Cengage Learning. pp. 87, 88. 
  6. ^ Malik, Sajid; Jörg Schott, Julia Schiller, Anna Junge, Erika Baum, and Manuela C Koch. (2008). ""Fifth finger camptodactyly maps to chromosome 3q11.2–q13.12 in a large German kindred."". European Journal of Human Genetics 2. 
  7. ^ http://childrenshospital.org/az/Site644/mainpageS644P4.html
  8. ^ http://congenitalhand.wustl.edu/2012/03/camptodactyly.html

External links[edit]