Wednesday, November 19, 2014

Syndactyly in Apert syndrome - pictures

Still too busy to spend lots of time blogging... So, today I'll just post a couple of photos of a fairly well-known medical condition, often (but not always) associated with a specific genetic disorder.

Syndactyly is a condition where two or more digits (fingers, toes or both) are fused together. While not as crippling as lacking a limb or part of a limb, it impairs mobility and function to some extent.

Syndactyly can be simple or complex.
  • In simple syndactyly, adjacent fingers or toes are joined by soft tissue.
  • In complex syndactyly, the bones of adjacent digits are fused.
Syndactyly can also be complete or incomplete.
  • In complete syndactyly, the skin is joined all the way to the tip of the finger
  • In incomplete syndactyly, the skin is only joined part of the distance to the fingertip
Complex syndactyly is a feature of certain genetic syndromes, including Apert syndrome - a condition characterized by  several abnormalities, such as craniofacial hypoplasia (underdeveloped bones of the skull and face), craniosynosthosis (premature fusion of the sutures of the skull) and syndactyly of the hands and feet. Today, the fused digits can be separated surgically.

And here are the pictures:

Above, you can see the fused fingers on the hand of a 27-month-old girl with Apert syndrome. The child also displayed other characteristic features of this disorder, including facial hypoplasia, mild exophthalmus (bulging eyes) and mental retardation. Her fingers were separated surgically using an abdominal skin graft.

And another one, showing the fused digits on a child's hands and feet:

 Image from: Agochukwu et al. 2012

On the X-rays, you can clearly see that the bones are fused, not just the soft tissues. I've always been mildly fascinated by the odd appearance of these limbs.

And a third photo. These hands and feet belong to a 1-year-old girl with Apert syndrome.


Agochukwu NB, Solomon BD, Muenke M. (2012) Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv Syst. 28(9): 14471463.
Metodiev Y, Gavrilova N, Katzarov A. (2011) Anesthetic management of a child with Apert syndrome. Saudi J Anaesth. 5(1): 87–89. 

Derderian C, Seaward J. (2012) Syndromic Craniosynostosis. Semin Plast Surg. 26(2): 64-75.

Wikipedia - Syndactyly


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