Saturday, October 31, 2020

2 Common Types of an Uncommon Condition- Symbrachydactyly

When I consider all of the different patients with a birth anomalies that I have the privilege to evaluate and treat, there is no question that symbrachydactyly is the diagnosis most often misnamed or unnamed.  Amniotic constriction band is perhaps most commonly given as the incorrect diagnosis for the patients.

Symbrachydactyly literally means short, webbed fingers.  And that certainly can be how patients with symbrachydactyly present as I have previously shared here- Previous Post.  While there are 7 types (depending on your favorite classification), in my mind there are two types which are most common.  All seven seem to be related to the same issue, and not a genetic one.  We believe that a lack of blood supply to the developing limb is most likely the cause of symbrachydactyly and the timing determines the severity, the type.

The short finger type of symbrachydactyly is really the type that best fits with the name.  The fingers are shortened due to a short or absent middle phalanx and the fingers are also commonly webbed.  The other common type is the "cleft" type symbrachydactyly in which the thumb and little finger are normal or close to normal and the index, middle, and ring fingers are notably short and may be only a nubbin.


Here are two great examples of these two types of symbrachydactyly.  First, the short finger type.  This patient had surgery to separate the fingers at about 18 months of age and is functioning at a high level and is satisfied with appearance.

Short finger symbrachydactyly.  Note the middle phalanx is abnormal. 

Short finger symbrachydactyly.  Close examination shows the surgical scars from web deepening.

Short finger symbrachydactyly.  


The other common type of symbrachydactyly is the cleft type.  The painted fingernails help visualization.  And the nubbins are small bones (distal phalanx) with nails that develop from the ectoderm after the vascular insult affects the mesoderm in the developing arm.



Cleft type symbrachydactyly.  Note the three nubbins in the cleft. 

Cleft type symbrachydactyly.  Note the thumb is normal and the little finger is more, but not normally developed as the middle phalanx is absent.


Thanks for reading,


Charles A. Goldfarb, MD              

email: congenitalhand@wustl.edu

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Saturday, October 17, 2020

An Unusual Pollicization Procedure

Radial polydactlyly (extra thumb) is a relatively common problem for those of us who treat kids with birth differences/ anomalies of the upper extremity.  Please see the following link for previous posts on the topic LINK.  Sometimes these can be treated by a "straightforward" procedure with excision of the extra thumb and stabilization of the primary thumb.  Other times a more complex surgery is required which can include a similar procedure + cutting and realigning the bones.  More rarely, other procedures are required.  This is one such case.  

This patient has an uncommon type of extra thumb.  There are really two issues.  First, there are really two extra thumbs.  And second, there are five fingers (including the most radial one being in the plane of the fingers).  



Unusual radial polydactyly (extra thumb)
Another view of Unusual radial polydactyly (extra thumb)



X-ray showing the extra thumb (or 2 thumbs) with 5 fingers.


Initially, we made a decision with the family to remove the extra thumbs.  Structurally, there is no 'great' thumb and creating a useful thumb would be difficulty if not impossible.  Instead, we focused on removing these thumbs and then better understanding if a second surgery would be necessary.  There was a possibility that the patient would be sufficiently function with a five finger hand.

Here is the hand after the first surgery.

View after surgery.  Now a 5- finger hand

5- finger hand after surgery 


Ultimately, we decided that additional surgery made sense for function primarily but also appearance.  This is a triphalangeal thumb that is largely in the plane of the fingers making pinch a challenge.  There are different approaches but we elected to perform the pollicization procedure and are pleased with the early results.


After pollicization surgery, 4 week visit


Another view after pollicization surgery


Another view after pollicization surgery




I believe that his new thumb to function really well.  It takes time for kids to start using the new thumb although each child is different- some start using it well at 3-4 weeks and for others, it can take 6 or more months.  Therapy is helpful, sometimes with simple actions like taping the thumb in an easy, functional position and other times with more deliberate functional assistance.

Thanks for reading,


Charles A. Goldfarb, MD              

email: congenitalhand@wustl.edu

Please CLICK HERE to support our research.  
Designate my name.  Thank you!



Saturday, October 3, 2020

Early Action in Madelungs Deformity

Years ago, I met an 7 year young lady who came to my office with no complaints.  Mom brought her even though she had no hand or wrist pain and no functional limitations.  The reason for the visit was a strong family history of Madelungs deformity (mom and sister).  There was no clinical evidence of a syndrome and the patient was of normal height.  However, xrays did confirm very early, quite subtle Madelungs deformity of both wrists.

First, most of the time we do not have the opportunity to see patients so early.  The typical patient with Madelungs deformity presents at 11- 12 years of age with wrist deformity and perhaps some motion limits and pain.  Occasionally, a happenstance xray (maybe for a trauma) will pick this up or, as in this patient, a family history will lead a family to bring a younger brother or sister in for evaluation.   The classic example is a patient with Leri Weill dyschondrosteosis which includes Madelungs deformity, short stature, and short forearms (a form of dwarfism).   These patients have a more obvious clinical presentation and have a known genetic issue with the SHOX gene as noted in this link.  Another great site is OMIM.  

Second, the question of etiology is not completely clear.  We know that the distal radius growth plate (a specific part- ulnar and palmar) does not grow as it should.   This is likely the primary issue.  The role of a ligament tether is less clear.  This was first discussed by Dr. Vickers in Australia and we typically call the abnormal ligament by his name- the Vickers Ligament.  This structure is really a thickened short radiolunate ligament (a normal structure).  Whether this ligament is a cause of the radius deformity in Madelungs deformity by acting as a tether or whether it is a secondary effect is unclear.  However, there is some evidence that release of this ligament might be helpful.  This report is helpful and there is much anecdotal evidence as well.




This article describes a small group of patients treated with an open excision of the ligament without progression of the deformity.  My personal experience is mixed.  Sometimes this can work, other times it has not been successful.  Nonetheless, because this operation is straightforward, safe, and allows a fast recovery, it makes sense for many families as it offers the chance to avoid the bigger operations often required as seen here: Madelungs Surgery

The other option is an arthroscopic release of this ligament- this further simplifies the operation, the scarring, and the recovery.  We can release the short radiolunate ligament through this minimally invasive approach through pokehole incisions that disappear.

This patient was seen as a 7- year old.  There were subtle xray changes as you can see here.


Early Madelungs deformity of the left wrist, findings from 2015  


In some cases, the xrays are normal.  MRI can be helpful in these situations to assess the growth plate and a potentially abnormal short radiolunate ligment (Vickers ligament when it is thickened/ abnormal). 

The now 12 year old patient returned for a check up without complaint.  She is now 5 years after her small surgery.  No pain, no deformity.  Radiographs continue to show mild Madelungs.  We will continue to follow this patient for 2 additional years while her growth plates are open.





Thanks for reading,


Charles A. Goldfarb, MD              

email: congenitalhand@wustl.edu

Please CLICK HERE to support our research.  
Designate my name.  Thank you!