Brachydactyly, or short fingers, is a different condition as there are the normal 5 digits with shortening of either the phalanges or metacarpals or both. The different classifications are helpful as there are so many types and the classifications help keep some sort of organization. Most commonly cited are those by Bell and Temtamy and McKusick (Temtamy SA, McKusick VA. The Genetics of Hand Malformations. New York: Alan R Liss, INC; 1978). There are a number of good educational sites on the topic of brachydactyly. One such site is the OJRD- Orphanet Journal of Rare Disease which provides information through the NIH http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2441618/#B1
and another great site is through OMIM- the Online Mendelian Inheritance in Man which categorizes each individual type. http://www.ncbi.nlm.nih.gov/omim/?term=brachydactyly
I will not repeat all the detailed information available through these amazing sites. A few key points, however, are worth repeating. First, brachydactyly can be isolated or can be part of a larger syndrome. This means that for most people, the short fingers are the only issue- there are not other conditions to worry about. Second, it is most commonly passed in an autosomal dominant fashion (50% chance of passing it on to your children). So, in most cases, a parent will have brachydactyly which obviously helps in understanding the abnormality. And last, many of the genes associated with brachydactyly have been identified. We actually know where the problem is in the human genome but, as of now, we can't do anything about it. Eventually, we may be able to "fix" the problem, but the science is simply not there yet.
Brachydactyly is typically a condition that affects the appearance of the hand more than the functional ability of the hand. The type of brachydactyly obviously matters as some types will cause finger deviation, some an isolated shortness of the digits and some a combination. The finger deviation is a type of clinodactyly as I have previously discussed. http://congenitalhand.wustl.edu/search?q=clinodactyly
Surgery is not usually required but can be helpful for marked deviation or, rarely, for marked shortening of the digits. Surgery is usually an osteotomy (cutting of the bone).
This is an example of brachydactyly type E. This patient had no pain, excellent motion (as shown), and was not overly concerned about the appearance of her hand.
|Brachydactyly- both hands affected but the right hand is more noticeable.|
|Note the knuckle asymmetry in brachydactyly.|
|Brachydactyly with different length metacarpals.|
|The most notable finding in this patient with brachydactyly is the short 5th metacarpal. The 4th metacarpal is also short.|
|The right hand in the same patient with brachydactyly shows a very short 3rd and 5th metacarpal along with a short 4th metacarpal.|