Cleidocranial Dysplasia

Cleidocranial dysplasia is a rare birth condition most notable for the lack of collarbones (or small collarbones- clavicles).  While this is recognizable, other findings include abnormalities of the teeth as well as delaying closing of the fontanelles (skull bone deficits).  This is an autosomal dominant condition related to the RUNX2 gene but importantly, it is often the result of a new mutation.  More information on the gene can be found HERE.  Genetic testing can help the diagnosis of cleidocranial dysplasia but may not be necessary.  The identified gene is also known as the CBFA1 gene located on the short arm of chromosome 6.

A few other sites provide good summaries of cleidocranial dysplasia including the rarediseases site through the NIH, the NORD site, and OMIM. 

From an orthopedic surgeon standpoint, the lack of the clavicle or collarbones is the most notable and unusual finding.  This provides dramatic shoulder mobility but does not specifically cause problems with daily function.  Therefore, surgery or other intervention is not required.  And this is different than pseudoarthrosis of the clavicle- a condition on only one side (vs both sides with cleidocranial dysplasia) and one that may benefit from surgery. I have previously blogged on it HERE. 

The images of a patient with cleidocranial dysplasia without clavicles are dramatic- demonstrating the mobility of the shoulders seen below.

Patient with Cleidocranial dysplasia which is not immediately noticeable.

Patient with Cleidocranial dysplasia showing dramatic flexibility.

Patient with Cleidocranial dysplasia.

Patient with Cleidocranial dysplasia without obvious difference from behind.

Cleidocranial dysplasia x-ray demonstrating absent clavicles

Charles A. Goldfarb, MD

My Bio at Washington University

My Publication List
congenitalhand@wustl.edu

Hypoplastic Thumb Reconstruction

Patients with a small thumb- a hypoplastic thumb- often have functional limitations due to limited muscle development and a lack of joint stability.  Therapy is always the first line of treatment but is often unsuccessful with this anomaly.  We therefore often proceed with surgical reconstruction.  I have previously blogged about the surgical choices and recently posted a video of function after surgery.  In this post, I wanted to share anoth brief video on what a successful surgical result look like, at the early time point of 2 months.  This patient was already thrilled with his thumb motion and strength and demonstrates excellent motion of the thumb.  As you watch the video, note the surgical scars (still maturing) as well as the lack of muscle around the thumb (defining the hypoplastic thumb).

Charles A. Goldfarb, MD

My Bio at Washington University

My Publication List
congenitalhand@wustl.edu

Thumb Reconstruction in Action

My favorite day of the month is our 'big' clinic at the Shriners where my partner and I see patients all day (no surgery).  It is such a pleasure to see new and followup patients with so many different rare conditions.  I learn at each of these clinics because patients show me (and sometimes tell me) what works, what doesn't, and why.  Needless to say, the residents and fellows learn so much as well- it is an unusual experience with rare conditions, great kids and great families.

Today, I had the pleasure of seeing one patient back, about 6 years after reconstruction of his left thumb.  He has hypoplastic thumbs, a topic on which I have posted about several times including HERE and HERE.  Actually both of his thumbs are small with limited muscle but his left side was the problem leading to surgery.  The right side has continued to do well despite a lack of full muscle development.

Underdeveloped thumb, left side had surgery for reconstruction with Huber Opposition.

The left side was reconstructed with a Huber opposition transfer in which a muscle (abductor digiti minimi) is transfer to the thumb.  This is one great option and it used to be my first choice to help the thumb move better.  We recently published our positive experience with this operation in The Journal of Hand Surgery.  These pictures are, to me telling.  The thumb is nicely resting in a position of function.  However, some have observed that it is hard for the patient to flatten the thumb after this procedure.  I have been using a somewhat different surgery over the last few years (the FDS tendon opposition transfer) with very good results also.

Pictures are helpful but video tells the real story.  Watch his 'new' skill.  He is quite talented and his thumbs work amazingly well.

Charles A. Goldfarb, MD

My Bio at Washington University

My Publication List
congenitalhand@wustl.edu