Camptodactyly is a

medical condition A disease is a particular abnormal condition that negatively affects the structure or function (biology), function of all or part of an organism, and that is not immediately due to any external injury. Diseases are often known to be medica ...

that causes one or more fingers or toes to be permanently bent. It involves fixed

flexion Motion, the process of movement, is described using specific anatomical terms. Motion includes movement of organs, joints, limbs, and specific sections of the body. The terminology used describes this motion according to its direction relative ...

deformity A deformity, dysmorphism, or dysmorphic feature is a major abnormality of an organism that makes a part of the body appear or function differently than how it is supposed to. Causes Deformity can be caused by a variety of factors: *Arthritis an ...

of the proximal

interphalangeal joints Interphalangeal joint may refer to: *Interphalangeal articulations of hand The interphalangeal joints of the hand are the hinge joints between the phalanges of the fingers that provide flexion towards the palm of the hand. There are two sets in ...

. Camptodactyly can be caused by a

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...

. In that case, it is an

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...

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.

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. A number of

congenital A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can ...

syndrome A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired ...

s may also cause camptodactyly: *

Jacobsen syndrome Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. It is a congenital disorder. Since the deletion takes place on the q arm of chromosome 11, it is also called 11q te ...

Beals syndrome Congenital contractural arachnodactyly (CCA), also known as Beals-Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. As with Marfan syndrome, people with CCA typically have an arm span that is greater than their hei ...

Blau syndrome Blau syndrome is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes, and joints. It is caused by a mutation in the ''NOD2'' (''CARD15'') gene. Symptoms usually begin before the age of four, and the disease manifests ...

Freeman–Sheldon syndrome Freeman–Sheldon syndrome (FSS) is a very rare form of multiple congenital contracture (MCC) syndromes ( arthrogryposes) and is the most severe form of distal arthrogryposis (DA). It was originally described by Ernest Arthur Freeman and Joseph H ...

* Cerebrohepatorenal syndrome *

Weaver syndrome Weaver syndrome is a rare autosomal dominant genetic disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is characterized by advanced osseous maturation and distinctive cra ...

* Christian syndrome 1 *

Gordon syndrome Gordon syndrome, or distal arthrogryposis type 3, is a rare genetic disorder characterized by cleft palate and congenital contractures of the hands and feet. Signs and symptoms Other signs and symptoms include short stature, bifid uvula, hip disl ...

* Jacobs arthropathy-camptodactyly syndrome *

Lenz microphthalmia syndrome Lenz microphthalmia syndrome is a very rare inherited disorder characterized by abnormal smallness of one or both eyes ( microphthalmos) sometimes with droopy eyelids ( blepharoptosis), resulting in visual impairment or blindness. Eye problems may ...

* Marshall–Smith–Weaver syndrome * Oculo-dento-digital syndrome * Tel Hashomer camptodactyly syndrome * Toriello–Carey syndrome *

Trisomy 13 A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two. A trisomy is a type of aneuploidy (an abnormal number of chromosomes). Description and causes Most organisms that reprodu ...

* Stuve–Wiedemann syndrome *

Loeys–Dietz syndrome Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. The disorder is marked by aneurysms in the aorta, often in children, and the aorta ...

* Fetal alcohol syndrome * Fryns syndrome *

Marfan syndrome Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have exceptionally flexible joints a ...

* Carnio-carpo-tarsal dysthropy

Genetics

The pattern of inheritance is determined by the phenotypic expression of a gene—which is called '' expressivity''. 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

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

Etymology

The name is derived from the

ancient Greek Ancient Greek includes the forms of the Greek language used in ancient Greece and the ancient world from around 1500 BC to 300 BC. It is often roughly divided into the following periods: Mycenaean Greek (), Dark Ages (), the Archaic peri ...

words ''kamptos'' (''bent'') and ''daktylos'' (''finger'').

References

External links