It is always interesting to me when I see an older child with underdeveloped thumbs, aka hypoplastic thumbs. Most of the time, children with small thumbs are identified early in life as small thumbs are typically part of a larger issue, radial longitudinal deficiency (RLD). However, when isolated, underdeveloped thumbs can be easy to “miss” early in life and may only be noticed when children face increased demands on their thumbs in school or sports.
There are 3 parts to the underdeveloped thumb.
1) The thumb looks different due to a lack of the muscles at the base of the thumb, the thenar muscles. While this may be clear to someone with training, this deficiency in muscles may not always be easy to appreciate.
2) The thumb MCP joint (connecting the thumb to the hand) is unstable. This may be the most important part of the underdeveloped thumb from a functional standpoint. The reason this is important is the lack of joint stability affects pinch strength and, eventually, this can cause functional limitations. Basically, a weak pinch is not ideal and can absolutely limit what a child or adult can accomplish.
3) The web between the thumb and index finger may be shallow in the underdeveloped thumb. While not always a problem, when this web is really shallow, it can limit the size of the object that the child can grab (such as a ball or soda can).
As mentioned above, the three signs are usually identified early as part of the bigger problem of RLD. But sometimes, the thumb is an “isolated” problem. We see that when one arm has severe RLD and the other seems normal. But with close examination, the thumb on this “normal” side is really underdeveloped. Or, as noted above, the child comes to clinic at age 10 or so complaining of different appearing thumbs that lack strength. That is the case for this child.
 |
| Underdeveloped or hypoplastic thumbs. Not the lack of muscle at the base of the thumb. |
 |
| The underdeveloped thumb looks slightly different here but no obvious findings. |
 |
| The underdeveloped thumb does not have good stability as shown in this stress picture. |
 |
| X-rays of an underdeveloped thumb. While not obvious, there is a clear difference in the thumb development compared to normal. |
And why do we like to make this diagnosis? Well, the underdeveloped thumb is a part of the spectrum of RLD. So, even if the underdeveloped thumb is isolated, the patient still has RLD. And, as I have blogged about Here, this carries risks for other abnormalities such as VACTRL, TAR syndrome, Holt- Oram Syndrome, and others. If the child is properly identified, these other issues can be properly assessed.
In addition, if we identify the underdeveloped thumb, we can treat it to maximize function. I have previously written about this Here, although that post discusses pollicization (not appropriate here) and reconstruction of the joint and the muscles (what we would consider for this patient).
Charles A. Goldfarb, MD
My Bio at Washington University
congenitalhand@wudosis.wustl.edu
This is really interesting, and it causes me some great confusion. I've posted to you before, we have a son who has all four limbs affected in some way, we don't have a name for everything he has, but rather identifications of each issue separately. He has hypoplastic thumbs, and no one has ever told us that this means definitively that he's part of the RLD spectrum. We have been told however that he has ulnar deficiency, so how common is it to have both? I can't imagine common at all, but then you throw in bilateral radial head dislocation, bilateral fibular hemimelia and CFD – now you've got our 1 in a million boy. We haven't had all the workups that you suggest for RLD, so now I'm starting to wonder if we should consider this. We have no treatment plans for his upper limbs as he is very functional and in PT 3 days a week, so monitoring is happening too. I've been reading your blog for about a year, when I found it, and it's so enlightening. I would the opportunity to speak to you offline if possible. We're in Michigan. Please let me know if that's possible without a visit to you. Thanks! Melanie
Melanie,
We can find a time to talk- email me directly (see bottom of each post). I believe that the small size of your son's thumbs is likely related to his ulnar deficiency (and not a separate RLD). We know that the thumbs can be affected in ULD (and the thumbs can even be absent)- but typically these thumbs look a bit different than the small thumbs in RLD (i.e, classic hypoplastic thumbs).
Hello Dr. Goldfarb.
My daughter is now 24 years old and she has Vactryl syndrome and was diagnosed when she was born. However, we did not find out about her right underdeveloped thumb until she was about 7 or 8. We went to a plastic surgeon at that time and because my daughter had severe fine motor difficulties, it was advised that we not pursue surgery as she would have to do many fine motor activities to allow her to use her thumb joint properly. I never did seek another opinion but is this still the case?
Hello. Thank you for the question. If your daughter continues to have fine motor challenges, surgery very well could make sense. The key for you is to find a hand surgeon who treats a large number of children with birth anomalies but also treats adults. An adult hand surgeon who rarely treats children would, in my opinion, not be ideal. Good luck.
Good evening Dr. Goldfarb. I am just beginning to research hypoplastic thumb. I am the aunt of an 18m old male. I have noticed from early on that my nephew had what appeared to be a smaller thumb on his non-dominant left hand. My brother and sister-in-law have taken my nephew to two pediatric hand surgeons. The first felt that his first web space is tight. The second stated that my nephew has type IIIb. I am a physician and some time ago I had suggested PT/OT, but this did not come to pass. I was shocked when my brother has suggested pollicization. Are there alternate therapies that should be pursued? For example strengthening of thenar muscles via PT/OT. Are there other surgeries that can be performed in an attempt to give him more functionality? I am not a surgeon or a pediatrician, but I do deal with many, children as I am an ER physician. If possible, I would like to speak with you by phone at your convenience. I have been unsuccessful in finding answers to questions that I am sure can be answered without too much time spent. Kind regards, MC
Hello and I am sorry for the delay. While it can be difficult to assess the type of hypoplastic thumb, if indeed there is a IIIB thumb, I feel strongly that both functionally and aesthetically, a Pollicization is the best option. There are reconstruction techniques for the thumb but I have never seen that reconstructed thumb be as strong or look as good as a Pollicization. Therapy will not be sufficient to help.
It seems like your family has already gotten two opinions. Hopefully, they are feeling comfortable with one or both surgeons. Feel free to email me at congenitalhand@wustl.edu with more specific questions.