Camptodactyly

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

Camptodactyly
Congenital-kamptodaktyly.jpg
SpecialtyMedical genetics

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.[1]

CausesEdit

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.[2]

A number of congenital syndromes may also cause camptodactyly:

GeneticsEdit

 
Example of a pedigree of Camptodactyly inheritance

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. 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.[1]

TreatmentEdit

 
Splint for the left little (pinky) finger of a 7-year-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]

EtymologyEdit

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

See alsoEdit

ReferencesEdit

  1. ^ a b Malik, Sajid; Jörg Schott; Julia Schiller; Anna Junge; Erika Baum; Manuela C Koch (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.
  2. ^ a b Kozin, Scott H. (2004). Hand Surgery. Lippincott Williams & Wilkins. Archived from the original on 2015-01-01. Retrieved 2013-12-05.
  3. ^ Callewaert, B. L.; Loeys, B. L.; Ficcadenti, A; Vermeer, S; Landgren, M; Kroes, H. Y.; Yaron, Y; Pope, M; Foulds, N; Boute, O; Galán, F; Kingston, H; Van Der Aa, N; Salcedo, I; Swinkels, M. E.; Wallgren-Pettersson, C; Gabrielli, O; De Backer, J; Coucke, P. J.; De Paepe, A. M. (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.
  4. ^ Young I. D.; Simpson K.; Winter R. M. (1986). "A case of Fryns syndrome". J. Med. Genet. 23 (1): 82–88. doi:10.1136/jmg.23.1.82. PMC 1049547. PMID 3950939.
  5. ^ a b IŞIK, Metin; DOĞAN, İsmail; KILINÇ, Levent; ÇALGÜNERİ, Meral (15 March 2012). "Familial peripheric polyneuropathy plus camptodactyly; three sisters". Turkish Journal of Physical Medicine and Rehabilitation. 58 (1): 72–74. doi:10.4274/tftr.55477.
  6. ^ Cummings, Michael R. (2011). Human Heredity: Principles and Issues. Cengage Learning. pp. 87, 88.
  7. ^ "Camptodactyly Treatments". Boston Children's Hospital. 2013. Archived from the original on 2017-09-05. Retrieved 2017-09-05.
  8. ^ Goldfarb, Charles (27 March 2012). "Camptodactyly". Congenital Hand and Arm Differences. Retrieved 2017-09-05.

External linksEdit

Classification