Finger Deformities Symbrachydactyly

Short Fingers- Brachydactyly

I have written several times about symbrachydactyly– that is short, webbed fingers.  This common condition is distinctive in appearance (although there are multiple different types).   I have actually written 10 posts that relate to symbrachydactyly.  https://congenitalhand.wustl.edu/search/label/Symbrachydactyly

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. https://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.

0 Comments

  1. Hello, I looked at my photo when I was 23-24 where I have my fingers stretched fully and they are really long, I am 190cm, but now when I look at my hands, at 27 almost 28, my fingers have significantly shortened. My father has normal finger length still, I think also my mother. Is brachydactyly since birth or it can develop in adulthood? Thank you.

  2. Hi, I was diagnosed with this as a child (I have five shortened metacarpals between my hands, and two in my feet) I have a weakened grip, and I'd probably break my hand if I tried to punch something due to the angles of my fingers, but fortunately boxer was never on my careers list. One thing I've always been curious about though, and I can't see it even in the x-rays, is the cause of the indented knuckle. Although aside from being behind the muscle of my palm, it works like a normal joint, it feels disconnected, and I was wondering if you could tell me what the differences are and why they're there. How does the joint still function when I can feel the ends of both bones separately?

  3. Hi, I was diagnosed with this as a child (I have five shortened metacarpals between my hands, and two in my feet) I have a weakened grip, and I'd probably break my hand if I tried to punch something due to the angles of my fingers, but fortunately boxer was never on my careers list. One thing I've always been curious about though, and I can't see it even in the x-rays, is the cause of the indented knuckle. Although aside from being behind the muscle of my palm, it works like a normal joint, it feels disconnected, and I was wondering if you could tell me what the differences are and why they're there. How does the joint still function when I can feel the ends of both bones separately?

  4. hello Charles,

    My son is 10 years old. he was born with his toes and fingers the same length, however recently I have noticed that his pinky is left pinky is slightly shorter in length and his right toe is also slightly shorter in length. Does this mean that as he grows the difference will become more apparent in your opinion? any suggestions.

  5. Hello. Thank you for writing. It is honestly difficult for me to know. But, I doubt the difference will become worse and the % difference should stay about the same. And, thankfully, the digits don't have too much growth remaining.

    I hope that helps.
    Chuck

  6. I didn't even know this had a name. I've been search for years. No one in my family has this issue but me. It affects both hands and feet. All i was ever told was some of my growth plates stopped growing. When looking at pictures when i was younger it didn't become noticeable until i was 6 on my feet an 10 on my hands. Can the toes ever be corrected

  7. I have the exact same hands! Missing knuckles on both pinkies and on my right middle finger. It feels amazing to not be the only one with hands like mine

  8. Oh wow! Thank you so much for this article.
    I was born with missing 2 knuckles on my left hand on my pinkie and ring finger, based on what you wrote short metacarpals. On my right hand, only my pinkie finger is affected.
    Also both my thumbs are very short and broad at the nail.
    I seem to be a rare case based on recent readings thanks to your article.
    In the last 2 weeks though (hence my sudden research into this, I am having a rather painful left hand where my knuckle should be. I can barely bend / close my hand and wondered if in your opinion this could be related at all.

  9. Melonlemon,
    Thank you for sharing. It is difficult to know. Pain is uncommonly related to the short metacarpals but has been reported. Hopefully time and perhaps immobilization will allow this to calm down. If not, a hand surgeon who treats both kids and adults will be most helpful. Good luck.

  10. I am 68 and always new my pinky fingers were different, as though they were missing the knuckle. I now, have a problem with the ring and middle fingers pulling towards my pinky finger. The shorter metacarpal was visible on an x-ray I had of my hand. I was just given a brace to wear and exercises to do. I also have some Scottish in me! I have difficulty typing, playing piano, grasping etc. Does anyone know the name of the surgery that can be done to alleviate the tendon issues related to the shortened metacarpal 5th finger? I have no other anomalies (that I know of!). nam

  11. Nam- thanks for writing in. It is unclear to me what might help you. It is certainly unusual that this birth condition would start causing problems after all of these years. I would recommend that you see a hand surgeon. Good luck!

    Charles Goldfarb

  12. Hi,

    I believe that the 5th metacarpal on both of my hands is shortened. I did not notice this until I was 17, because my hands are symmetrical. Have you ever seen a case like this, where the 5th metacarpal is shortened on both hands? Also none of my immediate or extended family members have it (including my parents, my sister, and my grandparents). Although I'm assuming both of my parents have the gene and that it just happens to be recessive, is it common for this to not be obviously genetic? Additionally, my fingers are not as flexible as other people's are (ex: if I put my hand up and then try to push my fingers back, they move maybe a centimeter as compared to other people who can bend their fingers back several centimeters). However, my family members are all unable to bend their fingers back as well. Is this related to symbrachydactyly?

  13. Hello. Thank you for writing. Yes, both 5th metacarpals can be affected and this is a form of brachydactyly (note, not symbrachydactyly). Presumably, there is a genetic component and possible endocrine abnormality (pseudohypoparathyroidism or pseudopseudohypoparathyroidism).

  14. All of my fingers on both hands are short. Is this brachydactyly? I’m a 39 year old male and have always noticed most other males hands are much bigger than mine as well. Never really bothered me until I recently started learning guitar. I worry I will run into issues not being able to play certain things. Most guitarists seem to have really long fingers.

  15. Thanks for the question Steve. While it is impossible for me to answer your question, this is unlikely brachydactyly. Brachydactyly often affects different fingers differently rather than symmetrical shortening of all fingers. Good luck with the guitar!

  16. I’m hoping you can shed some light on what may be going on and where to look for answers. I’ve been looking through countless articles but run into dead ends as most available to me online are little more than the syllabus of one’s findings…

    Both my children have shortened 5th metacarpals (looks just like above; “missing knuckles.”)

    For history, their paternal grandfather has many formation mutations. Not only does he have this but he also has clubbed thumbs, brachymetatarsia on his 4th toes, short stature, Craniosynostosis (type I’m not sure but it’s visibly evident,) diabetes, and more (but to specify and put a name to them, I don’t have those answers.)
    He had 3 sons, one of whom is my children’s father and they all have notable mutations only, they all differ.
    One has quite a few noticeable conditions, like his father above but they don’t present in all the same ways;
    One is short in stature but has only broad big toes and smaller than average hands/feet to be seen;
    And my children’s father only has smaller hands and feet than average and broad big toes. He is of average height.
    Two of the 3 son’s have also been diagnosed with diabetes in adulthood (not my children’s father.)

    As for my children, they both appeared to have skipped what ever gene is causing all this at birth.
    It wasn’t until they were each around 4-5, when their bone structure began to be more prominent that things were noticed.
    Both my children were born of average weight/height however, when one was around 3, they began to fall below for height and are now (years later) quite small for their age. This child has also had dental issues with enamel formation and early decay, and asp has a deviated septum.
    My other child has no other notable developmental things going on (aside from brachydactyly) however, it should be noted that they were born with an accessory tragus (ear tag.) That of course could have no connection but given that it’s also rare and we’re dealing with other “rare” things, it may be part of whatever gene mutation is causing these things.

    I’ve pointed these things out and expressed my concerns over the years to pediatricians, general MD’s and their dentist but aside from their acknowledgement in the “unusuals,” I’ve not been given any info or direction on what may be going on, or where to find answers.

    Aside from some physical differences, my children appear healthy in all ways however, if there’s something health wise we should be aware of, even if it’s down the road, because of whatever their mutation may be, I want to be sure we’re knowledgeable of it so we can do all we can to help keep them truly healthy.

    I thank you in advance for your time and any help you may have. It’s truly appreciated.

  17. Hi Meg. Thank you for the question. I am unaware of general health issues and would defer to those that have examined your children. I wish I could provide guidance or direction but unfortunately cannot. I posted so that perhaps a reader may weigh in.

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