Madelungs Deformity- not always a problem

Madelungs Deformity is a common condition in my practice although uncommon in general.  I have previously blogged about it a few times- you can read those posts HERE.  In general, I see patients in my office with Madelungs who have symptoms including pain with activities, limited motion, and wrist deformity.  Most commonly, we see patients in their early teenage years.  Every patient is somewhat different in these complaints and, therefore, a careful conversation with patient and family is vital.  Madelungs Deformity is also genetic and associated with the SHOX gene.  An excellent (somewhat technical) discussion can be found at this NIH site.  Because of the genetics, it can run in families, typically passed from mother to daughter.  It can also be associated with Leri Weill Dyschondrosteosis (a mouthful) which includes Madelungs, short stature and short forearms and thighs.    In those patients with a family condition (ie genetics), we sometimes see patients before there is deformity and before there may even be clear Madelungs on x-ray.  We try to give every family the best advice but these discussions can be tricky as every teenager and adult has different symptoms and so, we can' t predict what will happen.  What I mean is that some patients have notable Madelungs Deformity but no or minimal pain while others are limited by their deformity.  This variability makes it tough for patients and families when we discuss surgical options that have the chance to minimize or prevent the development of the Madelungs Deformity.

Here are my thoughts.
1) Most patient have disease on both sides.  When I treated one side, almost every single patient comes back for surgery on the other side which, to me, implies satisfaction with surgery.
2) The surgery for established Madelungs Deformity cuts and repositions the bone and attempts to re- establish growth plate lengthening.  The surgery for those with early or mild Madelungs (or even those patients predicted to develop Madelungs because of the genetics) is different.  In these cases, we try to release a tether that may contribute or cause the development of Madelungs.
3) Surgery for older patients (adults) is typically related to pain on the ulnar side of the wrist (the pinky side) and for those patients, we shorten the over- long ulna.  This surgery has good success.

Below is an excellent example of one patient with Madelungs Deformity without pain or significant limitations.  She does have mild decreased wrist and forearm motion but is able to participate in all activities as desired.  She presented to my office only after a routine wrist x-ray detected the abnormality and she was referred.  Our discussion included all of the above.  She has notable deformity but only on one side.  Surgery can certainly help the deformity and, I believe, will help decrease the chance of future problems.  But, this is a tough family decision because she does not have current symptoms.  The family understand the issue and will consider how they would like to proceed.

Madelungs Deformity, only side affected.  It is likely associated with a syndrome including short stature and short forearms.

Madelungs Deformity on the left side only.  Not the deformity on the left and the straight wrist on the right.

Madelungs Deformity on the left side only.  Not the deformity on the left and the straight wrist on the right.

X-rays of typical Madelungs Deformity

Charles A. Goldfarb, MD

My Bio at Washington University
Email me: congenitalhand@wudosis.wustl.edu