Friday 26 September 2008

CHARGE syndrome, split foot and cats

Are CHARGE syndrome, split foot and cats related? I take the subject matter for this post from the helpful and concerned cat breeders who are part of a Yahoo Group who have raised the possibility of a link. The discussion is also about how cat breeders deal with genetic defects in breeding lines.

First things first. What is CHARGE syndrome? This is a mnemonic that stands for Coloboma, Heart defects, choanal Atresia, Retarded growth and development, Genital abnormalities, and Ear anomalies (src: In other words, in layperson terms, a range of diseases and conditions that profoundly affect the person. This disease affects people, by the way. Of the people who inherit this multifaceted disease some, for example (I won't set out a complete list) have hearing, and/or swallowing problems (70%-90% of people with this condition have these problems) and/or abnormal outer ears (the ear flap is deformed). There are a wide range of abnormalities, developmental malformations and deformities. What causes it?

CHARGE syndrome is inherited through an autosomal dominant defective gene. If a parent has CHARGE syndrome the offspring have a 50% chance of acquiring the condition. Mutated/defective genes have resulted in the creation of new cat breeds, think American Curl (curly ears) or dwarf cats as two examples, there are more. So, this is an inherited health problem that causes a range of developmental deficiencies of a serious nature in humans. Can this be syndrome occur in cats and is there a relationship between CHARGE syndrome, split foot and cats?

Cat anatomy in similar or the same as ours at a fundamental level. For this reason, cats are used (most regrettably from my standpoint) in medical research. Cat health problems are often similar to ours. There are wide range of similarities such as heart disease (HCM - see HCM in Bengal cats), kidney disease etc. There is the possibility that cats could suffer from CHARGE syndrome it seems to me. It may even be accepted that CHARGE syndrome affects cats - please leave even the briefest of comments if you know the answer.

Next, what is split foot? A lot of us have heard of Polydactyl cats, cats with more than the usual number of toes. Some people think that there is a breed of cat called the American Polydactyl cat - there isn't. Anyway, split foot as the name implies, is a foot (and this developmental defect can affect many animals including humans) that looks as though it has been split into two, when in fact it is the result of the fusion of the toes or digits. The medical term is "Syndactyly". And cats that have the condition are called "Syndactyl cats" as opposed to Polydactyl cats.

Is it possible that split foot is one of the developmental deficiencies that come under the umbrella of CHARGE syndrome? Possible I guess. This leads to another topic where the word "profound" can be used. The question is how should cat breeders deal with genetically inherited diseases in cats? This is a question that goes to the heart of cat breeding as a feature of cat breeding is the need to inbreed (breed closely) to enhance appearance and this is fraught with problems. (Do wild cats instinctively avoid inbreeding - does this give us a clue as to how to breed cats?)

The arguments go like this:

One argument: If I, as a cat breeder, am totally open about a genetic defect that I think is in my breeding line(s) then other breeders will use it against me. It'll cause problems. It is best that I keep quiet and deal with the problem myself. Or wait until the experts research the problem and then I'll take action.

Another argument: Genetically inherited diseases occur in all non purebred cats (mixed breed cats or moggies), they are everywhere as a part of normal life. Why should I as a cat breeder highlight problems that are normal at the risk of ruining my business and making things worse?

Another counter argument: We can't wait until the experts research complex genetically inherited health problems because funding is slow to come through and in any case we, as cat breeders, can see or sense that there is a problem and we therefore owe it to ourselves, the cats (this is the main reason) and our customers to deal with it without delay and to discuss the matter with other breeders to allow a full and open discussion to take place to expedite a resolution of the problem.

Which argument do you agree with.............?

CHARGE syndrome, split foot and cats to Cat health problems

My view is that it is likely that there is a relationship between CHARGE syndrome, split foot and cats.

1 comment:

  1. My son was born with charge - he will 6 months old this 16th of April. I have been researching syndrome and found your article to be very interesting. I liked it. I enjoyed it. I appreciate that it is in open discussion type format. I am writing to call to attention that someone may get the impression that human CHARGE syndrome may be linked to inbreeding... This is not the case. And I if there was any way for you to correct this in the article or write an additional note to it explaining that is not the case. It would be appreciated. :) good luck with helping the breeders. Thanku for your consideration


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