What is Ectrodactyly? An overview.

When I first found out that my baby would be born with ectrodactyly, I was devastated and shocked.  But mostly, I was scared and and uncertain of the future.  A lot of questions wandered around my head.  How bad would my sons hands and feet turn out?  what would they look like?  How did he get this condition?  What would my son's physical limitations be?  What would the doctors be able to do for him? 

Well the way I dealt with this was to do as much research as possible.  Throughout my life, whenever I have faced a major ordeal, I have responded by learning as much as I could about the problem.  'Knowdledge is power' as they say, so I like to face my problems by being well informed.

It turns out that ectrodactyly is rare and kind of hard to find a lot of information on.  If you google "ectrodactyly", you are likely to see a lot of links to medical freak-show type websites, Bree Walker, and complicated scientific research papers on genetics. But I did the best I could and this is what information I could get from different resources.

Ectrodactyly is a Greek word that literally means abortion of a finger.  A different website states that ectrodactyly translates to "monstrous fingers".  The medical definition of ectrodactyly is the congenital loss of fingers or toes.  A more common (and recognizable) nick name for ectrodactyly is "lobster-claw syndrome", as hands or feet affected often take the shape of a claw.  Ectrodactyly has also been known as split-hand or split-foot malformation.  Another more specific scientific term for the condition are the initials 'EEC', which stands for ectrodactyly, ectodermal dysplasia, and facial cleft syndrome, naming three features associated with the condition.

The most typical presentation of ectrodactyly occurs in the hands and/or feet.  It involves the absence of the three middle digits, leaving a large cleft down the middle.  This gives the hand and/or foot a claw-like appearance.  



My son's right hand, which only has two fingers


Ectrodactyly can also occur in other variations.  Sometimes, only one or a couple of digits can be missing, with or without the cleft.  In other cases, hands and/or feet can actually have extra digits or webbing.  (By the way, the presence of an extra digit is known as syndactyly.)


 In the past, doctors have typically tried to repair and close the cleft in attempt to give the hand and/or foot a more normal appearance and a narrower shape.  Now, doctors are realizing that such surgeries might be unnecessary and can actually cause lost of functionality and movement.

For example, my son has two fingers, a thumb and a pinky.  The orthopedic surgeon told us that if they closed the cleft in the middle of his hand, he would lose the opposing thumb.  He would not be able to pick things up or grip things with that hand anymore.  Hand prosthetics are also unnecessary and would only get in the way.  We were told that children are very resilient and learn how to adapt, often times turning their "disability" into amazing abilities :-).

Both of my son's feet are affected by ectrodacyly.  He only has one toe on each foot and his feet are positioned upside down and backwards. Ectrodactyly can cause deformities in other bones, as well.  This is what happened with my baby, as his right femur (thigh bone) is misshapen too.  It is dramatically curved up, causing his knee to be rotated to the side.  The doctor told us that both of his feet will need to be amputated when he is six months old, so that he will be able to learn how to walk on prosthetics by the time he turns one.  At this point, we are not sure how his right femur will be treated. We are waiting for the specialist to tell us if it can be repaired surgically or if that whole leg will just need to be amputated.

my sons legs.  Notice how his right thigh bone is curved up.






Two boys with ectodermal dysplasia

Earlier, I mentioned that Ectrodactyly is sometimes called EEC syndrome for ectrodactyly, ectodermal dysplasia, and facial cleft syndrome.


 Ectodermal dysplasia is the absence of sweat glands causing a variety of skin and pigmentation problems.


 



Cleft palate (a split in the upper part of the lip and mouth) can also be associated with this condition.


A small percentage of people with ectrodactyly also have some level of hearing loss.  Interestingly, I have been partially deaf since birth.  All of my extremities are normal and deafness is my only symptom of ectrodactyly. My father has ectrodactyly and I didn't realize I had inherited it from him until my son was born with it.  I had always thought my hearing loss was a separate random condition.    But apparently, I do have it and I have a 50% chance of giving it to my offspring. 

This brings us to how ectrodactyly happens. It is a very rare condition and only 1 in a 100,000 children are born with it. It is usually a genetically inherited condition, as in one parent passes it down to their child.  However, ectrodactyly has occasionally been known to occur spontaneously even when neither parent has it. Most commonly though, it runs through the entire family and can be traced back for several generations.  It affects families of all ethnicity from all over world, including Asia, the UK, south America, Africa and the US.  Even some animals can have ectrodactyly.

 Well, ectrodactyly does run in my family.  My father has it and  several of his brothers and sisters (my aunts and uncles) have it, as well.  But neither their father or mother (my grandparents) have it and we are not sure of which generation started it.  I am the only child of my father and mother, his first wife. My only symptom of ectrodactyly is the deafness.  My father has ten other children with his second wife and the majority of them are affected to varying degrees.  Most of my half-brothers have it in their feet and several of my half-siblings have hearing loss. One of my brothers was actually affected in the same way as my son and he also had to have both of his legs amputated.

So there you have it. A little information on ectrodacyly and how my little miracle is affected by it.