Camptodactyly
{{short description|Permanent bending of a finger or toe}}
{{Infobox medical condition
| name = Camptodactyly
| synonyms =
| image = Congenital-kamptodaktyly.jpg
| caption =
| 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 {{Cite web|url=https://www.childrenshospital.org/conditions-and-treatments/conditions/c/camptodactyly|archive-url = https://web.archive.org/web/20211116235335/https://www.childrenshospital.org/conditions-and-treatments/conditions/c/camptodactyly|archive-date = 2021-11-16|title = Camptodactyly | Boston Children's Hospital}}
| complications = People with severe camptodactyly may have difficulty holding objects
| onset = There are congenital forms, adolescent-onset forms and acquired forms {{Cite web|url=https://www.childrenshospital.org/conditions-and-treatments/conditions/c/camptodactyly|archive-url = https://web.archive.org/web/20211116235335/https://www.childrenshospital.org/conditions-and-treatments/conditions/c/camptodactyly|archive-date = 2021-11-16|title = Camptodactyly | Boston Children's Hospital}}
| duration = Life-long
| types =
| causes =
| risks =
| diagnosis =
| differential =
| prevention =
| treatment = Splinting, surgery, etc.
| medication =
| prognosis =
| frequency = 1% of the world population {{Cite web|url=https://www.orthobullets.com/hand/6074/camptodactyly|archive-url = https://web.archive.org/web/20210804041645/https://www.orthobullets.com/hand/6074/camptodactyly|archive-date = 2021-08-04|title = Camptodactyly - Hand - Orthobullets}}
{{Cite web|url=https://www.chop.edu/conditions-diseases/camptodactyly|archive-url=https://web.archive.org/web/20210621112335/https://www.chop.edu/conditions-diseases/camptodactyly|archive-date=2021-06-21|title=Camptodactyly|date=18 November 2016}} {{cite journal |last1=Ravishanker |first1=R |last2=Bath |first2=AS |title=Distraction - A Minimally Invasive Technique for Treating Camptodactyly and Clinodactyly |journal=Medical Journal, Armed Forces India |date=July 2004 |volume=60 |issue=3 |pages=227–230 |doi=10.1016/S0377-1237(04)80051-0 |pmid=27407638 |pmc=4923171 }}
| deaths =
}}
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.{{cite journal|last1=Malik|first1=Sajid|last2=Schott|first2=Jörg|last3=Schiller|first3=Julia|last4=Junge|first4=Anna|last5=Baum|first5=Erika|last6=Koch|first6=Manuela C.|date=February 2008|title=Fifth finger camptodactyly maps to chromosome 3q11.2–q13.12 in a large German kindred.|journal=European Journal of Human Genetics|volume=16|issue=2|pages=265–9|doi=10.1038/sj.ejhg.5201957|pmid=18000522|doi-access=free}}
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.{{cite book|last=Kozin|first=Scott H.|url=http://www.msdlatinamerica.com/ebooks/HandSurgery/sid1015056.html#R2-87|title=Hand Surgery|publisher=Lippincott Williams & Wilkins|year=2004|edition=1st|access-date=2013-12-05|archive-url=https://web.archive.org/web/20150101191852/http://www.msdlatinamerica.com/ebooks/HandSurgery/sid1015056.html#R2-87|archive-date=2015-01-01|url-status=dead}}
A number of congenital syndromes may also cause camptodactyly:
- Jacobsen syndrome
- Beals syndrome{{Cite journal|last1=Callewaert|first1=Bert L.|last2=Loeys|first2=Bart L.|last3=Ficcadenti|first3=Anna|last4=Vermeer|first4=Sascha|last5=Landgren|first5=Magnus|last6=Kroes|first6=Hester Y.|last7=Yaron|first7=Yuval|last8=Pope|first8=Michael|last9=Foulds|first9=Nicola|last10=Boute|first10=Odile|last11=Galán|first11=Francisco|display-authors=3|date=March 2009|title=Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature|journal=Human Mutation|volume=30|issue=3|pages=334–41|doi=10.1002/humu.20854|pmid=19006240|first13=Nathalie|first18=Julie|last12=Kingston|first12=Helen|first20=Anne M.|last20=De Paepe|first19=Paul J.|last19=Coucke|last18=De Backer|last14=Salcedo|first17=Orazio|last17=Gabrielli|first16=Carina|last13=Van Der Aa|first15=Marielle E.|last15=Swinkels|first14=Iratxe|last16=Wallgren-Pettersson|s2cid=25975581|doi-access=free}}
- Blau syndrome
- Freeman–Sheldon syndrome
- Cerebrohepatorenal syndrome
- Weaver syndrome
- Christianson syndrome
- Gordon syndrome
- Jaccoud arthropathy
- 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{{cite journal|last1=Young|first=I. D.|last2=Simpson|first2=K.|last3=Winter|first3=R. M.|date=February 1986|title=A case of Fryns syndrome|journal=Journal of Medical Genetics|volume=23|issue=1|pages=82–88|doi=10.1136/jmg.23.1.82|pmc=1049547|pmid=3950939|doi-access=free}}
- Marfan syndrome{{cite journal |last1=Işik |first1=Metin |last2=Doğan |first2=İsmail |last3=Kilinç |first3=Levent |last4=Çalgüneri̇ |first4=Meral |title=Familial Peripheric Polyneuropathy Plus Camptodactyly; Three Sisters |journal=Türkiye Fiziksel Tıp ve Rehabilitasyon Dergisi |date=15 March 2012 |volume=58 |issue=1 |pages=72–74 |doi=10.4274/tftr.55477 |doi-access=free }}
- Carnio-carpo-tarsal dystrophy
Genetics
File:Expressivity pedigree.png
The pattern of inheritance is determined by the phenotypic expression of a gene—which is called expressivity.{{cite book|last=Cummings|first=Michael R.|url=https://archive.org/details/humanhereditypri00cumm_534|title=Human Heredity: Principles and Issues|publisher=Cengage Learning|year=2011|isbn=978-0538498821|edition=Ninth|pages=87, 88|lccn=2010922222|url-access=limited}} 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
File:Splint used to treat camptodactyly.jpg
If a contracture is less than 30 degrees, it may not interfere with normal functioning. The common treatment is splinting and occupational therapy.{{Cite web|url=http://www.childrenshospital.org/conditions-and-treatments/conditions/c/camptodactyly/treatments|title=Camptodactyly Treatments|date=2013|website=Boston Children's Hospital|language=en|access-date=2017-09-05|archive-url=https://web.archive.org/web/20170905093911/http://www.childrenshospital.org/conditions-and-treatments/conditions/c/camptodactyly/treatments|archive-date=2017-09-05|url-status=dead}} Surgery is the last option for most cases as the result may not be satisfactory.{{Cite web|last=Goldfarb|first=Charles|date=2012-03-27|title=Congenital Hand and Arm Differences|url=http://congenitalhand.wustl.edu/2012/03/camptodactyly.html|url-status=live|archive-url=https://web.archive.org/web/20200815181556/http://congenitalhand.wustl.edu/2012/03/camptodactyly.html|archive-date=2020-08-15|access-date=2017-09-05|publisher=Washington University in St. Louis}}
Etymology
The name is derived from the ancient Greek words καμπτός, kamptos (bent) and δάκτυλος, daktylos (finger).
See also
References
{{Reflist}}
External links
- {{Commons category-inline|2=camptodactyly}}
- {{Wiktionary-inline|camptodactyly}}
{{Medical resources
| DiseasesDB = 30760
| ICD10 = {{ICD10|Q|68|1|q|68}}
| ICD9 = {{ICD9|755.59}}
| ICDO =
| OMIM = 114200
| MedlinePlus =
| eMedicineSubj =
| eMedicineTopic =
| MeshID =
}}