# Dwarfism



## Arion Mgmt (Mar 8, 2007)

Hello Everyone, I am posting here because I think this place is the best place to disseminate info fast. I am John Eberth, most of you probably know me or know of me, I am trying to complete my research on Dwarfisms in Miniatures. In order for me to accomplish this I need to pathologically characterize the 4 specific and different types that I have theorized to exist in this breed. This information will be published in scientific journals. I can only do this with x-rays of the 3 viable different types of dwarfs, (the fourth is lethal early in gestation and not able to be x-rayed due to not having ossified bones.) I only need to x-ray these dwarfs, that is all, they also need to be alive and at least 1 year old, this is required for all 3 types. I am not going to show pics on here but I will email some pics to people that think they have one and are willing to help, I do not want to show someone's dwarf pics all over the internet that I have been sent. If you think you have one of these types, and are willing to let me x-ray the horse you can email me. You can be anonymous and also I do not need to x-ray parents or need blood BUT if you want to offer blood that would help me even more, so much more. These x-rays will be examined by UK's Equine Pathologist and me and then we will write a paper characterizing pathologically these types. Just so everyone understands, this has never been done, there has never been any pathological scientific characterization by digital x-ray of any dwarfisms in Miniatures. This really needs to be done to prove there are different types, most of you probably have realized that there is more than one type.

I want to be very clear, I am the Chairman of the AMHA's Genetic Committee, and this is for my research with the University of Kentucky. The University has recently granted me at least $20,000.00 for my research, (I announced this at the AMHA convention), plus funds raised by some of the members of AMHA and the Association as well, (another $5,000.00). This is real and things are going to happen, but I need the help of my fellow members AMHA AND AMHR, (I do belong to both!!) to accomplish what many of you have been wanting to know about. If you are willing to help please email me at [email protected] Thank You. John Eberth


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## [email protected] (Mar 8, 2007)

Hi John,

I'm so glad to see you making progress with this as it is sucha crucial area for all of us that do breed.

(I was one of the people at the Genetics Committee meeting).

Congratulations on the grant!


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## Mona (Mar 8, 2007)

I am so happy to hear your program is moving foward, and I hope you can gather all of the xrays and blood samples that you will need to prove/disprove your theories. GOOD LUCK, and thank you for taking the initiative to do this for our breed!


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## tifflunn (Mar 9, 2007)

:bgrin Bump :bgrin


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## Margo_C-T (Mar 9, 2007)

Thank you for the update, John-seeing this research progressing makes me doubly glad that I sent a donation!

Would you be willing to post a brief synopsis of the three (viable)types you believe exist? Indications, etc? I can think of what would likely be three different manifestations that I have seen, either in the flesh or in photos; would very much like to know more!

Regards,

Margo Cox-Townsend


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## Joyce (Mar 10, 2007)

Mona has just written what I was about to say John so I won't repeat it. I have had one dwarf born in my years of birthing and never mated that pair again. Good luck with your project.

Joyce from Little Folks Farm, CT.


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## Little Bit (Mar 11, 2007)

Hi John~

Just found your post.

I have a few questions for ya:

How do we go about doing this with the x-rays?

And do the owners of the dwarves have to pay for the x-rays and having them sent to you?

Thanks,

Janell


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## Arion Mgmt (Mar 12, 2007)

Janell,

If I do it with my vet the x-rays are free, if anyone that lives too far for me to travel to, and has a vet that has digital x-ray equipment, has my protocol, and knows what I am trying to do and that it is a real research study involving GLUCK and the University of Kentucky, the vets should be willing to donate their services for a procedure that would take all of about 5-10 minutes time and they would just need to send me the pics on a disc.

Dr. Griffin, Dr. Swerczek, and I have designed a protocol to use with digital x-ray equipment for examining the bone structures of dwarfs. I have x-rayed foals both normal and dwarf, but I have not x-rayed any adults dwarfs yet. In order to have sound scientific data, I need to compare foal dwarf with adult dwarf structures, and also compare them to normal. I am attempting to pathologically characterize the most common dwarfism I see in the Miniatures, if I am able to get x-rays on the other types I am trying to do that as well, but there are less of those types to examine. This has never been done by anyone, lab or University, on a statistically significant scale in order to have the results scientifically sound for publishing. This will help my overall description of the 3 different viable types that I have described. For example the most common type I see is showing characteristics very similar to AMDM in humans. Some have referred to this type as brachiocephaly, unfortunately that is a medical term specifically describing only the deformation of the cranium and trunk NOT the legs, therefore using that description for a dwarfism that involves the entire body is not accurate, nor medically correct. That is why I am doing this x-ray study to see what other bones are deformed to have a complete description of the disease.

I have not put the pics of the three types in this thread because I think that the info and pics I have on any dwarfs need to stay as private as possible, I know many people that have sent me pics do not have a problem with other people seeing the pics, those I use in my presentations, but I also have received pics and info from people that wish to remain private. I want everyone to feel comfortable with me and that what information I recieve is for science not for a sideshow, or to degrade. I will email pics to people that contact me directly that think they have one or know they have one and want to know more info.

I hope this helps everyone understand the enormity of my study.

John


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## Margo_C-T (Mar 13, 2007)

Thanks for the further information. I actually wasn't asking to see photos; only a description of the physical characteristics,especially those that are externally visible, of each of the presumed three viable types. I agree that 'bracheocephalic' would not be a properly complete descriptive term, as I have observed common additional physical manifestations in every one of that type that I've seen.

Margo


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## Little Bit (Mar 19, 2007)

Thank you for your response John, I appreciate it.

I am wondering when you say:



> I need x-rays of dwarves,


 is this a full body x-ray (if that is even possible)that you need or what part of the body of the dwarf are you wanting the x-rays of? Sorry if this is a stupid question, but I have re-read your post a couple times and I am still unsure of what kind of x-rays you need.
Also, could you please tell me the name of the vet that transferred from UK to TAMU, who will be doing the dwarf research there? I keep thinking you told us his name was Dr. Gus Cochran, or something like that, but when I asked about him in the office of the large animal hospital at A & M they were not familiar with that name.

Another thing I wanted to make sure of, my Little Bit's Forum produced Dwarf Mini calendars for 2007 to raise money for the dwarf research, and I am proud to announce that we have raised $600.00. :aktion033: I am wanting to get a check sent off as soon as possible, but I need to make sure if the information below is still good, as when I asked the lady in accounting at TAMU's large animal hospital about the dwarf research, she was not familiar with it either! :new_shocked:



> The checks need to be payable to "TAMU Foundation". They need to be mailed to Jerry Zalmanek's attention at the address shown below to this person. The accompanying letter should state that the funds are to be earmarked for the benefit of research endeavors in the area of Miniature horse dwarfism and there are no stipulations on their use. Once an acct number has been established, it would be helpful to have it listed in the letters as well.
> 
> Merrie Noak
> 
> ...


John I would like very much for you to post the names the 4 different types of dwarves. I know in your power point presentation you listed them, but they are such VERY long names, are there any shortend names for each type of dwarf???

I would like to post pictures of my 6 true dwarf minis on this thread and have you give me the name of the type of dwarf you believe they are....would that be OK with you? Also I think it would help to clear up a lot of misunderstanding many people have about the type of dwarf their's might be.

Janell


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## Arion Mgmt (Mar 20, 2007)

Janell,

The x-rays needed are very specific parts of the body, and certain views, meaning angles, that the x-rays are taken. My vet, the equine pathologist I am working with, and I worked on a specific protocol to use for the foals, we are going to apply it to the adult dwarfs, if other vets are going to help me they will need to contact me to get the protocol, you cant just x-ray the dwarf willy nilly and want use the x-rays to evaluate the bone deformities. The x-rays need to be done digitally, the reason is I am using a digital program that can zoom the x-ray, rotate, and electronically measure very accurately bone sizes.

The info you have for TAMU is correct, you can also list Dr. Gus Cothran for Attention to with Jerry. Dr. Cothran is an equine geneticist, not a vet, the vets in the animal clinic are probably not going to know all the researchers at the biosciences lab for genetic research, at least when I was at UC Davis Genetics lab that was the way it was, you only knew of a specific contact vet in the clinic. As for the clinic accounting department, that has nothing to do with genetic research at the biosciences dept. The clinic is responsible for care of the animals not genetic research done at the TAMU biosciences lab there, so the clinic would know nothing about any genetic research the biosciences dept was doing unless they have a vet in the clinic specifically working with the biosciences dept.

The scientific names of the 4 different types of dwarfisms that I have listed and shown in my powerpoint presentation are names of dwarfisms from humans and cattle, not for horses. There are no scientific names or characterizations for any of the Miniature horse dwarfisms, yet, that is what I am trying to do.

When a disease is first characterized in an animal, it initially is compared to similar LOOKING diseases in other animals to see what similarites are there and what differences are there. So that is what you see in the powerpoint presentation, my comparisons of what I see in Miniatures to what is seen and characterized in tother animals. That is why right now I just refer to the Miniature dwarfisms as types 1,2,3,4 and do not have names for them other than using the reference names of similar diseases seen in other animals. So to give the names of the diseases used for comparison would not be really that informative for really anyone except those that are do the research.

It is hard for people to understand how enormous of an undertaking this work that I am doing. I am trying to characterize not one, but 4 different diseases in the Miniature horse that are not seen in any other horse breed. On top of that I have no scientific reference data of characterizations of these (or simialar) diseases from any other horse breed within the equine world for comparisons to the minis , so I have to look out to other animal species for comparisons, i.e. humans and cattle. All of my thoughts on the Mniatures is hypothetical right now, the work of x-rays and genetic research is to try and see if my hypothesis on the pathological description and inheritance is scientifically true.

I cant just say that the dwarfisms seen in the minis look like "such and such" in the humans or cattle so therefore it is the same disease. The same disease can express itself somewhat differently in different animals, therefore what I am doing is trying to make my hypothesis a scientific fact.

If you find a disease in one animal then go see if there is anything that looks the same in a different animal and also determine if it is inherited the same way, i.e. dominant or recessive, sex-linked etc, to hopefully fill in the puzzle pieces to help track down the actual diseased gene to explain the inheritance and reasons why the gene malfunctons to cause the specific type of expression, (i.e. abnormal bone growth due to specific cells in the bones being altered by the malfunctioning protein that results from the mutated gene expressed in the animal.)

I would be happy to comment on your dwrfs, if you are wanting to post pics of yours, I will give my opinion on what type I feel they are, whether type 1,2,3,4, and give the hypothetically comparative disease I have found to be most similar to them, from other animals, and humans. These comparisons are strictly from a visual perspective not pathological or genetic. Again, this is how it is started in research of an uncharacterized or "new" disease.

John


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## Little Bit (Mar 21, 2007)

Thank you so much for your expanations John, I appreciate it, as I am sure others do, as well.

I will post pictures of my dwarves on this thread for you to see and tell me which type of dwarves you feel they are.

I have always gone by the article in the MHW written by Nancy McCurry in 1998 entitled " Snow White Had Seven" where she lists the Achrondroplasia type dwarves as being characterized by short limbs on a normal trunk, and the Brachycephalic dwarves having a bulging forehead with extreme dished face. etc.

When you refer to the 4 types of dwarves, would you mind listing some of the characterists of each type for us? Or at least the 3 types we see the most?


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## Arion Mgmt (Mar 24, 2007)

Jannell,

I went back and read the article you referred to in the MHW. The article had some helpful info for that time. It was flawed in some respects regarding disease characterizations and nomenclature associations to horses. Also there are no known inheritable dwarfisms in any other horse breed, there are possible non inherited sporadic mutation examples, however charcterizations vary from what we see in Miniatures. The article overall was informative for the general Miniature breeder.

One thing written in the article that I do not agree with is that a horse that has both copies of a dwarf gene is a dwarf no matter the penetrance and expression of the disease. In the article it says a dwarf "can be a little dwarfy". People could confuse that statement as for the possibility to inherit only part of the gene. Showing somewhat less expression of the disease might be called a "good" dwarf but that dwarf does not have less of the two dwarf genes, it still has both whole genes. Inheritance of the diseased genes cannot a partial thing, its all or none, what occurs is the variance of the penetrance of the disease.

Another variability seen is a horse with only one copy of the diseased gene and would be thought to look normal and be normal but has an extremely dished face or extremely short stature or have an undershot jaw only. These horses could be having what is called recessive penetrance of the recessive gene over the dominant "normal" gene.

The problem using that article as a reference to determine types of dwarfisms is that there are no pics to visually compare any of the descriptons to a "type". Therefore there could be a vast disparity in one person's interpretation of what is written to someone else's interpretation when trying to determine which type of dwarf one might have.

Therefore when describing a disease that involves physical malformations it is absolutely necessary to use visual examples to not have misinterpretations of written descriptions. i.e. brachycephalic syndrome, strictly involves the head not the body or legs in dogs (bulldogs or pugs) and in humans with a cephalic index measurement of greater than 80, this syndrome is used also to describe part of certain dwarfism diseases in humans as one characteristic and not the entire description of the specific dwarfism.

Achondroplasia in humans DOES involve the trunk of the human, with spinal loridosis and scoliosis and their trucks are shortened because all the bones are affected with ACH, but it is physically manifested the most in the extremities because those bones are the ones that grow in length more than other bones of the body.

I refer to the ACH type miniature horse dwarfs actually as AMDM, the physical characteristics are very similar to ACH but the inheritance of AMDM is autosomal recessive like in the Minis and that in humans AMDM carriers are smaller in stature than non-carriers and the carriers have absolutely normal looking characteristics and normal measurement proportions, like seen in the Minis. So there are more commonalities to AMDM than ACH when comparing them to the Minis. That is why I am looking at AMDM more than ACH as the possible candidate gene to compare to.

I will list the characteristics with your pics so people can look at the pic and understand better about the specific characteristics of the diseases. That way there should be less confusion as to which type has which specific unique malformations or similarities.

John


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## Nancy G (Mar 26, 2007)

John, It is wonderful that you are working to find answers for the dwarf gene. :aktion033:

Is it true ~ you won`t get a dwarf unless you have two that carry the gene?? Do you think there will ever be a test to find out if a horse carries the dwarf gene?

I hope when you find all the answers, a book will be published!!

Could someone start a poll to see how many farms have even had a dwarf foal? I`ve heard that if you breed long enough, there is a chance you will get one?? My one friend had one dwarf in 18 years of breeding!


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## Arion Mgmt (Mar 26, 2007)

Nancy G,

Actually I'm working on 4 different dwarf diseases, I hope I am able to design a test or tests that can be used large scale, sometimes a diseased gene is found but the mutation does not make it possible to make a large scale test, so we will see.

To understand about recessive inheritance of diseased genes, remember it takes two to tango, if you can understand that idea then you will realize both parents are to blame the same amount.

I dont know about a book but whatever I find, even if I cant make a test, it will be published in scientific journals.

John


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## Little Bit (Mar 29, 2007)

I apologize for taking so long to post these pictures:

Of course this is my Little Bit when he was 2 years old, he lived to be a little over 3 years old, and only grew to be 20 inches tall, weighing 83 pounds. He had an underbite with the front of his mouth twisted slightly, and his tongue stuck out of the side of his mouth about 2 inches.







This is my little Strawberry Delight, she is now 5 years old, she's about 24 inches tall and weighs about 85 pounds. I feel that Strawberry is the same type of dwarf as Little Bit was, just a little larger, she has an underbite.






Here is Toy who is about 27 inches tall at 2 years of age, I don't know how much she weighs for sure, but I would say about 130 pounds. She's very cow hocked and has a contracted tendon in her right front leg. Her bite has been perfect until just recently, and now she has a slight underbite






This is Smidgen, she's 3 years old and about 22 inches tall and weighes about 70 pounds, she has an underbite






This is my Tessa who is 12 years old 27 1/2 " tall and weighs 132 pounds, she has an underbite






This is Inky at about 2 years of age, he is now 4 years old, 23 inches tall, and weighs about 75 pounds, he has an underbite






This is Dusty, who is 9 years old and about 28 inches tall, probably weighs about 150 pounds. I call him my minimal dwarf or minimal expression dwarf. He has crooked front legs, and an underbite


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## Nancy G (Mar 29, 2007)

Well BLESS their little hearts. Strawberry Delight, looks almost as wide as she is tall. *Thank you * for giving them the love and care they so deserve!!



: I`ve only ever seen two dwarf minis. One had very crooked legs and real bad bite. The other looked a bit better but still had bad legs and bite. They also have good homes.


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## Little Bit (Mar 29, 2007)

*Thank you Nancy.



I'm gald to hear that the two little dwarf minis you know about have good homes, that's wonderful! :aktion033: *



> Strawberry Delight, looks almost as wide as she is tall.


 Strawberry isn't so wide, she just has a BIG tummy, because her iity bitty body stopped growing, but her internal organs didn't; they are most likely about the same size as a "normal" Miniature Horse's, and since they are stuffed into that tiny little body, there is nowhere for them to go but down and out.

When the surgeon up at TAMU came out after doing Little Bit's colic surgery, she had this surprised look on her face, and she said, "he doesn't have any excess fat inside of him at all, it's all large internal organs!"...I said, Yes, I KNEW that!"....I suppose she figured that he was just over weight like a lot of other folks thought, but I knew better!



:

Strawberry walks slightly on the outside edge of her back hooves in the back. I didn't adopt Strawberry until she was 3 years old. Her owner had contacted me about my *Magic Shoes* for her about a year earlier, but her farrier poopooed them, so she never did order them from me. I really do feel that if they had put my shoes on her, even at the age of 2, they would have corrected her back legs, but of course by the time I adopted her, her joints had already fused into this position. She gets around just fine though, canters and plays with the other Biscuits. :bgrin I attribute a lot of this to the Joint Care & extra MSM that she and all the Biscuits get every day. Her owner told me that she had never seen her even trot in the 3 years she had her, a month later when she stopped by to see Strawberry she was amazed to see her trotting and playing. :bgrin


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