Symbrachydactyly toes

Symbrachydactyly of the Foot

Symbrachydactyly, or short webbed fingers, is a birth difference which almost always affects one arm.  I have blogged about this anomaly several times- this is a link to all relevant posts.  http://congenitalhand.wustl.edu/search/label/Symbrachydactyly

One of the ways we differentiate symbrachydactyly from other anomalies is that it is almost always affects only one arm.  When more than one arm is affected or if the feet are also affected, other diagnoses such as amniotic constriction band must be considered.  Very rarely, the foot can be affected with symbrachydactyly (again, typically only one foot with a normal other foot and normal hands).

There are only a few reports of foot involvement in symbrachydactyly.  The most comprehensive is by Uchida in 1995 on 17 patients  http://www.ncbi.nlm.nih.gov/pubmed/7705729.  2 did have hand involvement also and 1 had a Polands syndrome (the most common association with symbrachydactyly of the upper extremity).  Polands syndrome is a lack of normal development of the chest muscles.

The reason to make this diagnosis is twofold.  First, to use the diagnosis to rule out other associated conditions.  What I mean is that if we diagnose symbrachydactyly, we do not expect serious internal organ issues such as problems with the heart, lungs, etc.  And second, symbrachydactyly is almost always a random, sporadic issue so that there is no predictable genetic transmission.  So if the parents have other children or if/ when the affected child has children, we should not expect others to be affected.

Symbrachydactyly of the foot.  Note the short 3rd and 4th toes.  No other extremities or digits were involved.

Despite the “normal” appearance of the great toe, second toe and 5th toe, the x-rays show that all toes are short in this child with symbrachydactyly of the foot.

18 Comments

  1. Great blog Dr Goldfarb, very useful information for people affected by symbrachydactyly. It's the first time I come across a picture of a foot affected by symbrachydactlyly in a similar way to my daughter's. The only difference is that she has all three middle digits affected. I was told at the hospital in London where we were seen that it was most likely due to an amniotic band in early pregnancy. Her twin sister was unaffected.

  2. Mimi,

    Thank you for your comment on the usefulness of the blog- great to hear! So many of the kids that we see have a diagnosis of amniotic band and often, I believe symbrachydactyly (whether of the hands or the feet) is the correct diagnosis. The two other key facts are that this is the only extremity affected- I think (amniotic constriction band is most often more than one extremity) and the fact that her twin was unaffected.

  3. Thank you for sharing, it is so difficult to find information on this!
    I am also a mother of twins (MoDi, meaning they shared a placenta and blood supply & are genetically identical).
    One of my girls has a central transverse symbrachydactyly. Her 1st & 5th toes are hypoplastic and have only one phalanx, the middle three toes have no bone. The other twin is not affected.

    Do you believe this may be more common amongst twins (mine are MoDi so shared a placenta)?

    I asked Professor Tonkin, who I am lucky enough to work with (I am a hand therapist), who does not know of any link between twins and congenital anomalies, however I would be interested in your opinion on this.

    Thank you!

  4. Justine. Thank you for the comments on your twins. You are fortunate indeed to work with Dr Tonkin who is a friend and a great resource for all of us who care for kids with birth differences of the upper extremity. I was fortunate to spend time with him years ago. I have not seen specific prevalence evidence that this is more common amongst twins but it does make some sense to me. There is evidence that symbrachydactyly is caused by a decreased blood supply which affects the growing limb- twin births may affect blood supply.

  5. Hi, my son has just been diagnosed with symbrachydactyly. His left arm stops at the elbow joint. I have been searching for information on this condition and everything I've found implies that the hand and fingers are affected. Could we have had a wrong diagnosis and should we seek a 2nd opinion? My son is 6 months old. Many thanks

  6. Hello,
    Symbrachydactyly is a broad term. Initially, there were 4 types of hand/ wirst involvement and then 3 additional types were added to include deficiencies at the wrist and forearm level. The difference between a proximal symbrachydactyly, like your son might have, and a congenital amputation is not always clear. If there are nubbins, many surgeons would consider it symbrachydactyly. One question is how did this happen. Neither symbrachydactyly nor congenital amputation or genetic- rather we believe the symbrachydactyly arm simply never formed correctly because of a low blood flow issue early in pregnancy whereas the congenital amputation implies a loss of the fully formed arm. I hope that is helpful.

  7. Dr. Goldfarb, this is a great page. Thank you for taking the time to devote your energy just to lower extremity symbrachydactyly. There is such an affinity for hand and finger research with this condition and it means a lot you're willing to write just about feet and toes. Why do so many researchers limit the definition for symbrachydactyly to just hands and fingers, if feet and toes can be involved, too?

  8. Mimi.
    I have twin boys.
    One twin with a foot that looks almost identical to the one in the picture. We were told it was ABS too and the other twin, totally unaffected.

  9. Hi Dr Goldfarb,
    Thank you for your blog, there are so many posts about symbrachydactyly and hands, it’s interesting to finally read about it also affecting feet.
    I was hoping for some insight, my 16mth old daughter has symbrachydactyly, or at least that is what it is being called but in her case all four limbs are affected.
    All digits on both hands are shortened and the right hand had webbing fusing all four fingers together. She also has webbing of three toes on her right foot and possibly shortened toes and is missing her left fore foot completely but has a functioning ankle and heel. Everything I have read makes this not sound like symbrachydactyly to me but I also haven’t come across any other description that suits. It is definitely not amniotic band syndrome. In your experience have you come across a case like this? Thank you

  10. Thanks for the question. There is certainly no easy answer without pictures, etc (feel free to email me offline if you want to send pictures, etc). However, I highly doubt your 16 month old has symbrachydactyly of 4 limbs. Typically, as you likely have read, symbrachydactyly affects a single hand/ arm only- that distinguishes it from other diagnoses such as amniotic constriction band which may affect all extremities.

  11. Hi Dr Goldfarb,

    My twin who has symbrachydactyly of the left foot is now almost 7 years old and a very active and sporty girl. Luckily she doesn't seem to be affected too much by it and wears same size shoes on both feet even if the left foot is a little bit shorter. She is so confident and determined to wear normal shoes that she even wants to wear flip flops in the summer. However, here in the UK I have found it difficult to get her the right foot support (at least for school shoes and trainers) as no one has experience of symbrachydactyly of the foot and the NHS podiatrist seemed out of depth with her. I am curious to know what kind of insole support (if any at all) would you recommend and if you have any images to share or relevant websites to direct me to it would be so helpful! Thank you

  12. Mimi,
    Thank you for your comment/ question. I am so happy to hear that your daughter is well adjusted to this issue! Symbrachydactyly of the foot is incredibly uncommon and I would not predict that any institution would be comfortable/ experienced with this diagnosis (including places that have a great congenital experience). But, the shoe support/ design should not be really based on the diagnosis but rather on the nature of her foot and the needed support. It may be that she needs no shoe support at all. I would encourage you to try to find another foot 'expert' who understands walking mechanics, etc.
    Sorry I could not be more helpful.

  13. Dear Dr. Goldfarb,
    Thank you so much for this post. Like the other commenters I have found the lack of information regarding this condition so frustrating. My son is 4 months old and both of his feet are affected, one more than the other. He has no toenails which from reading seems to indirectly indicate he has no distal phalanges? I’m wondering about learning to walk and what we can do to help with that. He has seen several pediatricians, a geneticist, a pediatric orthopedist, and a developmental specialist. No one seems to really know anything for sure and they seem to be reluctant to label his diagnosis or make any predictions about how things may go in the future. Is there anywhere or anyone you could suggest for more information? Thank you so much for your time and help.

  14. Tamsyn,
    Thank you for writing. I wish I could better help. First, other diagnoses should be considered and x- rays can be helpful. Making the best diagnosis is always an important start. I am surprised that the pediatric orthopedic surgeon was not more helpful. Perhaps, if possible, there is another such surgeon to see.
    Second, and based partly on the diagnosis, there may be shoe modifications which can help (but may not be necessary…). Finally, the lack of toenails does not necessarily mean there is not distal phalanx.

    If I can help more, feel free to email directly. Good luck.

  15. Hi Dr Goldfarb,
    Thank you for this post. I always read that symbrachydactyly affects hands only so it’s helpful to read that it also affects feet.
    We have been told that my 16mth old daughter has symbrachydactyly, however in our case all four of her limbs are affected, on both hands all fingers are shortened and the right hand also had webbing fusing all four fingers together, she has webbing and what seem to be shortened toes on her right foot and is missing her left fore foot completely but has a functioning ankle and heel. From everything I have read it makes it hard to understand this as symbrachydactyly but I also cannot find any other description to be similar. It is definitely not Amniotic band syndrome.
    Are you able to provide any insight into this?
    Thank you!

  16. Dear Dr. Goldfarb,
    Thank you for this post. My 7 month old son has been diagnosed with symbrachydactyly and a missing great toe on his right foot. I was hoping we could have your email address to send you a picture of his foot so we can get your input on the best course of action. We would really appreciate to hear your advice.

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