Friday, September 13, 2013

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.  http://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. 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.



34 comments:

  1. I was born with a short third metacarpal on my left hand only. The finger is considerably shorter than the others (almost half the size), is bent to the left. I am interested to know what may have caused this as I have never had it investigated. It is weakening as I age (I am currently 30 years old) and I am interested in whether this is related to rheumatoid arthritis at all - as my mother was diagnosed with this in her early thirties.

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    1. Tara, thank you for writing. I am going to add a post today about a single, short digit- so check that out. But the bottom line is that this is unlikely to be related to rheumatoid arthritis given that you were born with it. It is probably an isolated short metacarpal.

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    2. I also found another site with some basic information on an isolated short metacarpal. I hope this helps.
      http://www.human-phenotype-ontology.org/hpoweb/showterm?id=HP:0010041

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  2. Hi Charles,
    Thanks for the great blog!
    I'm an Australian doctor currently studying anatomy (again!) for my specialist exams.
    I always knew I had a short 5th finger bilaterally, but just happened to notice today while studying the upper limb that it is not my phalanges that are shortened. It must be the metacarpals!
    I found your blog and after seeing the part about autosomal dominance I raced in and checked my 2 children. Both of them have it! 2 for 2! So cool. From memory I think my only sibling has it too.
    I took pictures and it seems like my youngest child has metacarpals that are the most shortened - which I wasn't expecting as she resembles me the least physically.
    She also has an unusual 5th toe on the R side. It seems of normal size but sort of overlaps the 4th. None of this is obvious at all - luckily people expect the 5th digit to be smaller than the others!
    We don't seem to have any serious cognitive defecits or any other syndromes.
    (Haha! Although in studying right now I wish for any extra IQ points available!)
    I saw (I think on radiopedia?) an association of short 5th metacarpal with Type 2 Diabetes, which my grandfather had. Then again, a lot of people have diabetes, so I wonder how strong this association is.
    Anyway, thanks for putting this out there!

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    1. Erin,
      Thank you for your comments and story. Very interesting indeed. I don't believe the association with diabetes is a strong one, but certainly exists. Good luck!

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    2. Hi Charles,

      Is there any reconstructive surgery to bring a short 5th metaparpal to the normal length ? I have bilateral short 5th metacarpal and my dexterity is fine but it's really annoying on an esthetic point of view. I want to become a surgeon so it is really important for me ! What are the risks of such a surgery ?

      Thank you !

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    3. Metacarpal bones may be lengthened (see other posts in my blog) but it is probably not the right decision for you. Typically, an external fixator is utilized and good length can be accomplished. The problem related to the tendons which may not accomodate to the longer bony length. This can lead to finger stiffness and worse function. Good luck.

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  3. I saw the pictures of this girl's hands and they look so similar to my hands. I have a shorter pinkie finger on my left hand and a shorter ring finger on my right hand. I also have clubbed thumbs (my mum has clubbed thumbs, her dad did too and my brother has one clubbed and one normal thumb). My fingers all work normally, except I can't reach one of the keys on my clarinet with my left pinkie finger! Also I can't hold chopsticks the traditional way because my right ring finger is too short! When I was born, the doctors noticed that my left little toe is set back a bit and said it would be fine but if I had problems with shoes they could amputate it; it was fine so I still have my toe! Anyway I love how my hands are as they are always a good conversation starter!

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    1. Charlotte, thank you for the post. Very helpful and your experience is similar to what many of my patients have shared. Good luck!

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  4. hi Charles, i have a congenital deformation that i think you will find interesting, and also i am curious about it, i don´t know another person with this an i would like to know more about it.
    The issue is that i was born without the metacarpals of the pinky fingers and this pinky fingers are united with the 4th metacarpal. If you can let me an email or another way of contact in wich is possible to pass documents i can show you my bone scans, it would be great for me to know your opinion
    (excuse my english, i am from spain)

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    1. YO,
      Thank you for your post. I have seen patients with similar hands as you describe. Many such patients do just fine while others benefit from surgery. My email is: congenitalhand@wudosis.wustl.edu.

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  5. Hi dr.goldfarb my son has short four fingers in his left hand with no nails but the thumb is normal, what is the cause of that? is there is any treatment for him he is 2 months old and i want to know if i gonna to have other children they will have the same problem or not.

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    1. Hadir,
      Congratulations on the birth of your son. The fact that his thumb is normal is really, really important and it means that his function will be very good. The most likely diagnosis, based on your brief description, is brachydactyly or symbrachydactyly. There may be treatments to deepen webspaces or lengthen finger bones but only as he gets old.
      Finally, there is a possibility that your next child will be affected- it depends on exactly what type of anomaly your son has. I hope that is helpful- an experienced hand surgeon or genetics doctor would be able to examine your son and give you the best information. Good luck.

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  6. Hi charles, interested in your opinion on my condition. Doc told me 25 years ago that my tendons were to short on my dominant left hand and op success would only be 50/50. Both hands are the same size however with my left wrist straight to pushed back i am unable to extend any of my fingers. Wrist bent forward I can fully extend.
    Is this def a tendon issue and if so are the op chances any better 25 years on? Thanks in advance ☺

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    1. Andrew,
      It is difficult for me to give much helpful advice unfortunately. But I agree, it does sound like a tendon issue. And if so, correction now would probably not make much sense.

      Sorry I could not be more helpful.

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  7. Hi! I have pinkies that are shorter and have an indent where the knuckle should be. I never looked into this until now (I'm 34). Could I email you pictures? It never bothered me or got in the way. No one ever notices as well but I'm just curious. No one else in my family has this.

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    1. Hello Tracy. Please see my other responses. It sound like you may have a short metacarpal bone for the pinky. As you say, function is typically excellent and most don't notice. Xrays would be required for a diagnosis.

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  8. Hi my name is Quade rose. I am also interested in your opinion. I am a 22 year old male and I have had short 4th metacarpals in both of my hands since I can remember. I would like some information on treatment if thats possible. I have pictures and X-rays if you would like see them.

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    1. Quade,
      Thank you for the question. In most cases, we do not treat isolated 4th metacarpals. The only possible treatment is to lengthen the bone but that does create a notable scar. The reason to consider this procedure is to treat a functional limitation. Since most patients with a short 4th metacarpal function at a high level, this surgery is not regularly performed.

      I hope this helps.

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  9. My daughter has 3rd and 4th shortening. She has also a borderline hypothyroid. Im starting to wonder if they are connected.

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    1. Jenny,

      While we think about pseudohypoparathyroidism with short metacarpals, there are also reports of short 4th/5th metacarpals with hypothyroidism. See this link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784883/

      I hope that helps.

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  10. I have shortened fingers on both hands. On my left the third, fourth, and fifth fingers are affected and on the right so are my third and fifth fingers. I have clubbed thumbs on both hands and my fourth toes on both feet are shortened and set back. I have always known my hand strength was not great but as I am getting older I am realizing it is decreasing even more. Could this be because of the length of my fingers? Is there anything I can do other than using hand grips and is this something I can expect to worsen over time? I am only 32 and I am worried that as I age I will lose a significant amount of function.

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    1. Thank you for the question. You have a form of brachydactyly. It may affect strength and I agree with your strengthening plan- likely your only option. I don't think you will lose function in the future.

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  11. Hello doctor I have bdd type d (stub thumb) and have 2 questions.
    1. Is there any type of standard cosmetic surgery that could make my short broad tipped thumbs appear more "normal" and if so what would that entail. I know I should just accept it since it doesn't really affect me
    Besides being self conscious but I've always been curious if there is a corrective plastic surgery.
    2. I always read this is an inherited condition but counting down from all four grandparents including my parents, siblings, cousins uncles aunts exc. not a single other person has my thumbs. Are there other possibilities as to what could have caused it such as my mothers behavior when pregnant only something of that nature. Dying to know; thanks a bunch in advance for any info.

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    1. Thank you for the question Brett.
      I am not aware of cosmetic surgery for the broad, short thumb (more common than most people realize). I would absolutely hope that you can accept it for the way it is.
      The question of inheritance is interesting. I have read similar thoughts but agree, for many people, there is not a demonstrated relative. It may be a spontaneous mutation and I believe unlikely related to maternal risk factors/ behavior.

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  12. I thought that I didn't have a knuckle, i have a little finger on my right hand and I really thought that I had fetal alcohol syndrome. Thank you for sharing, I know that i am not alone in this.

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  13. My third metacarpal is short on both my hands, meaning my middle fingers are set back and appear short. I also have club thumbs and my Grandma has one small club thumb. My hands are also very small generally (about the size of a eight year old's). My mum took me to a paediatrician was I was 12 and they just said it was a genetic mutation. Now I'm doing more research and I've found this and that girl's right hand looks just like mine. Is it worth pursuing a diagnosis now?

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    1. Isobel,

      I always believe in trying to confirm a diagnosis as it can be helpful for you and potentially to better understand the possibility of passing this on to children. A hand surgeon like me who specializes in kids born with hand an upper extremity anomalies may be helpful; the other option would be a geneticist. Good luck.

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  14. Charles,

    Thank you for the insight. I believe I inherited this from my mothers side of the family. Both my mother, and maternal grandmother and a short 5th metacarpal on one hand each. I however am affected with short metacarpals 3-5 on my left hand, and 3-4 on my right hand. I am noticing that as a very active person, as I age, the more prone I am to wrist injuries on my left hand. I would like to learn more participate in any study for something like this, but I am not sure where to look. I am located in Eastern Washington State. If you know of any one I might be able to reach out to in my area that would be much appreciated.

    I also have rather small feet for my height, 5'8 and I wear a size 6 bowling shoe. I'd be curious to see if there was some additional stunting of the bones in my feet due to this congenital condition.

    Thanks again for your insight.

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    1. Thanks Joseph. While sometimes a genetic condition passes from one generation to the next in a very similar way, other times it differs. There can be different reasons for this including what the geneticists would call variable expressivity or possibly reduced penetrance.

      I do not know of any ongoing studies. Good luck.

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  15. I am a physician but do not know much about hand conditions. A year ago, my 6 year old daughter was diagnosed with bradydactyly. We were not told the type but it looks like the images above of Type E. We have not brought attention to this condition but she is becoming increasingly self conscious. Are there any stem cell treatments for this?

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    1. BG. Thank you for the question. Unfortunately, there are no effective treatments. Hopefully, and typically, function is very good. Appearance and concerns around it, vary. There are not stem cell treatments for this issue.

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  16. Hi, my daugther 10 years old has short the 3th finger of her left hand, she suffer for the bullying in her school, if there are surgery for that? The re is a good cases or success?

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    1. Anna,
      I hope that you can help your daughter work through this. Certainly, the 10-14 year old age can be tough with social pressure. But if her function is good, surgery would not make much sense. There are procedures to grow the shortened bone but these are complex procedures and have a high rate of complications. I hope this helps.

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