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Brachydactyly (
Greek Greek may refer to: Greece Anything of, from, or related to Greece, a country in Southern Europe: *Greeks, an ethnic group. *Greek language, a branch of the Indo-European language family. **Proto-Greek language, the assumed last common ancestor ...
βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means "short finger". The shortness is relative to the length of other long
bone A bone is a Stiffness, rigid Organ (biology), organ that constitutes part of the skeleton in most vertebrate animals. Bones protect the various other organs of the body, produce red blood cell, red and white blood cells, store minerals, provid ...
s and other parts of the body. Brachydactyly is an inherited, dominant trait. It most often occurs as an isolated
dysmelia Dysmelia (from the Greek (), "bad" + (), "limb" + English suffix -ia) is a congenital disorder of a limb resulting from a disturbance in embryonic development.(2006) Dysmelia (Limb Deficiency/Reduction). pp 312-322. In: Atlas of Genetic Diagnosi ...
, but can also occur with other anomalies as part of many
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. Brachydactyly may also be a signal that one is at risk for
congenital heart disease A congenital heart defect (CHD), also known as a congenital heart anomaly and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular ...
due to the association between congenital heart disease and carpenter's syndrome and the link between carpenter's syndrome and brachydactyly
Nomogram A nomogram (from Greek , "law" and , "line"), also called a nomograph, alignment chart, or abac, is a graphical calculating device, a two-dimensional diagram designed to allow the approximate graphical computation of a mathematical function. ...
s for normal values of finger length as a ratio to other body measurements have been published. In clinical
genetics Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar wor ...
, the most commonly used index of digit length is the
dimensionless A dimensionless quantity (also known as a bare quantity, pure quantity, or scalar quantity as well as quantity of dimension one) is a quantity to which no physical dimension is assigned, with a corresponding SI unit of measurement of one (or 1) ...
ratio of the length of the third (middle) finger to the hand length. Both are expressed in the same units (centimeters, for example) and are measured in an open hand from the fingertip to the principal creases where the finger joins the palm and where the palm joins the wrist.


Causes

Generally, brachydactyly is inherited through an
autosomal An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in au ...
dominant trait (The exact gene may differ see "Types" table for specific genes). However exceptions could exist due to
antiepileptic Anticonvulsants (also known as antiepileptic drugs or recently as antiseizure drugs) are a diverse group of pharmacological agents used in the treatment of epileptic seizures. Anticonvulsants are also increasingly being used in the treatment of b ...
medicines taken during pregnancy or low flood flow to the extremities during infancy.


Symptoms

Symptoms of isolated brachydactyly include shorter bones in the hands and feet. This could include, phalanges, metacarpals, metatarsals, carpals, and tarsals. Different types of isolated brachydactyly have different symptoms and they are grouped according to what areas they affect.


Prognosis

Isolated brachydactyly does not affect the wellbeing nor longevity of one's life, in most cases treatment is not necessary. The trait is primarily a cosmetic one and does not, in most cases, affect function of the hands and feet. Even left untreated and affecting function the general diagnosis of brachydactyly does not impact life expectancy. Prognosis may differ with different types or syndromes. ie
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
or if brachydactyly is not isolated and is a part of a larger genetic condition. In rare cases of isolated brachydactyly (with no treatment) simple functions like walking or grabbing things may be difficult reducing the overall quality of life.


Treatment

Treatment is only needed if brachydactyly affects the function of the
phalanges The phalanges (singular: ''phalanx'' ) are digital bones in the hands and feet of most vertebrates. In primates, the thumbs and big toes have two phalanges while the other digits have three phalanges. The phalanges are classed as long bones. ...
. In rare cases where function is affected,
reconstructive surgery Reconstructive surgery is surgery performed to restore normal appearance and function to body parts malformed by a disease or medical condition. Description Reconstructive surgery is a term with training, clinical, and reimbursement implica ...
is used to improve function and the ability to use one's phalanges. Another treatment includes
cosmetic surgery Plastic surgery is a surgical specialty involving the restoration, reconstruction or alteration of the human body. It can be divided into two main categories: reconstructive surgery and cosmetic surgery. Reconstructive surgery includes craniofa ...
(Which is often confused with reconstructive surgery but differs in that cosmetic surgery may not be seen as medically necessary while reconstructive is.) to improve the way the affected areas appear.


Diagnosis

Brachydactyly is usually diagnosed through
anthropometric Anthropometry () refers to the measurement of the human individual. An early tool of physical anthropology, it has been used for identification, for the purposes of understanding human physical variation, in paleoanthropology and in various atte ...
, clinical, or
radiological In physics, radiation is the emission or transmission of energy in the form of waves or particles through space or through a material medium. This includes: * ''electromagnetic radiation'', such as radio waves, microwaves, infrared, visib ...
methods. It is usually found early during infancy or in childhood years when the size difference becomes noticeable. It normally gets diagnosed as the difference in phalange size becomes more apparent. Healthcare providers complete a medical history, physical exam of your symptoms and use
radiographs Radiography is an imaging technology, imaging technique using X-rays, gamma rays, or similar ionizing radiation and non-ionizing radiation to view the internal form of an object. Applications of radiography include medical radiography ("diagnos ...
(X-rays). The X-rays show is certain bones are shorter than others or shorter than they are supposed to be. Along with these steps the healthcare provider may conduct a genetic test. This could be to see if the disorder runs in the family and has been passed down or to identify the defective gene.


Epidemiology

Most isolated forms of brachydactyly are considered rare (rare diseases are classified as affecting less than 200,000 people.) There are two exceptions: Type A3 and Type D which are considered common, affecting around 2% of the population Particularly high prevalence of Type D was reported among Israeli Arabs and in the Japanese population Type A3 was found at an especially high frequency of 21% among Japanese schoolchildren.


Types

There are several types of brachydactyly:


Other syndromes

In the above brachydactyly syndromes, short digits are the most prominent of the anomalies, but in many other syndromes (
Down syndrome Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual dis ...
,
Rubinstein–Taybi syndrome Rubinstein–Taybi syndrome (RTS) is a rare genetic condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affect ...
, etc.), brachydactyly is a minor feature compared to the other anomalies or problems comprising the syndrome.


See also

* Hypertension and brachydactyly syndrome * Thumb stiffness-brachydactyly-intellectual disability syndrome *
Clubbed thumb Clubbed Thumb is a downtown theater company in New York City that commissions, develops, and produces "funny, strange, and provocative new plays by living American writers." Since its founding in 1996, the company has earned five OBIES (including t ...
*
Syndactyly Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and diprotodontia, but is an unusual condition in humans. The term is from Greek σύν, ''syn'' 'together' and δάκ ...


References


External links


Type A2
* * * * * * * * * {{Congenital malformations and deformations of musculoskeletal system Congenital disorders of musculoskeletal system