Brachydactyly

Generally, brachydactyly is inherited through an autosomal dominant trait (The exact gene may differ see "Types" table for specific genes). However exceptions could exist due to antiepileptic medicines taken during pregnancy or low blood 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 untreated brachydactyly, simple functions like walking or grabbing objects may be difficult, reducing the overall quality of life. == Treatment ==

Treatment is needed only if brachydactyly affects the function of the phalanges. In rare cases where function is affected, reconstructive surgery is used to improve function and the ability to use one's phalanges. Cosmetic surgery (which is often confused with reconstructive surgery, but differs in that cosmetic surgery is not medically necessary, while reconstructive is) changes the way the affected areas appear. == Diagnosis ==

Brachydactyly is usually diagnosed through anthropometric, clinical, or radiological 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 symptoms and use radiographs (X-rays). The X-rays show whether certain bones are shorter than others or shorter than they are expected to be. Along with these diagnostic 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, that is, diseases affecting fewer than 200,000 people. However, type A3 and type D are relatively common, affecting around 2% of the population. Particularly high prevalence of brachydactyly 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, Rubinstein–Taybi syndrome, etc.), brachydactyly is a minor feature compared to the other anomalies or problems comprising the syndrome. == See also ==