Medical Questions > Conditions and Diseases > Genetic Disorders Forum

Genetic defect? symptoms listed? ideas?

I’m hoping that someone here with knowledge of / specialty in genetic syndromes can help me identify this underlying condition. The symptoms I have are deteriorating slowly, and I’m very scared by the fact that I do not know which syndrome is responsible, or what the outcome will be. Please help me; my symptoms are very real Crying or Very sad

I've been enduring these strange health problems for quite some time; the root cause of which I believe (coming from a background in science) is due to a genetic defect. I have quite a number of strange facial features & dental abnormalities, many of which I have noticed are attributed to various syndromes resulting from chromosomal aberrations (I.e. duplications, deletions, inversions, etc).

No doctor I’ve previously seen cared enough (or knew enough about this topic) to effectively find any syndrome which fit the criteria of symptoms. I have since lost my medical insurance and cannot afford to consult with a geneticist or undergo genetic testing.

I have a high IQ of 140. I have been diagnosed some time ago with Asperger’s syndrome (autism spectrum disorder), which is the cause for my high I.Q. I am 23 years old and have a background in biochemistry. I am 6’ tall and weighing in at 270 lbs.


FACIAL ANOMOLIES:

- Nearly-flat back of skull
- Frontal bossing
- Unusually large head
- Long, narrow face
- Bird-like facial features
- Drooping eyelids
- Small jaw
- Small mouth
- Unusually shaped & thin upper lip

DENTAL SYMPTOMS:

- Many adult teeth never developed (have many baby teeth)
- Delayed eruption of adult teeth
- Loss of tooth enamel
- Pitting in several teeth
- Deep grooves in lower front teeth

NEUROLOGICAL SYMPTOMS:

- Ghosting of visual field (recent)
- Simple partial seizures [temporal lobe epilepsy]
- Tinnitus (intermittent)
- Multiple chemical sensitivity
- Phantom odors & tastes (olfactory hallucinations)
- REM behavior disorder (violent sleep behavior)
- Shooting nerve pain
- Lack of fine muscle coordination (tremors)

ENDOCRINOLOGICAL SYMPTOMS:

- Marked testosterone deficiency
- Brief incident with manifestations of Cushing’s syndrome, which left substantial scarring from stretch marks.
- Substantial weight fluctuations (gain or loss)
- Gynecomastia
- Hypothyroidism
- Thyroid nodule

SKELETAL SYMPTOMS:

- Arched neck
- Extremely wide back with asymmetrical shoulder length (difference of 2”)
- Small hands in proportion to body size

GASTROINTESTINAL SYMPTOMS:

- Abdominal distention
- Hepatosplenomegaly
- Gluten intolerance

IMMUNOLOGICAL SYMPTOMS:

- Susceptibility to infections
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replied June 25th, 2008
Genetic Disorder in the Kidney
My daughter was diagnosed about 10 yrs ago with Gittlemans , to which we never heard of, no she is pregnant with her 2nd child (17 WEEKS) and they had to put a picc line in her todaymy questions is this should we seek out a high risk OB Dr?
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replied January 7th, 2009
I am no genetics expert, but in reading your post a few things jumped out at me that I remembered seeing in searching for my son's genetic problem. Have you looked into Marfan Syndrome?

The things that reminded me of it is the long, narrow face, bird like features, stretch marks on skin.

You can read more here: http://www.marfan.org/nmf/GetContentReques tHandler.do?menu_item_id=4

I know how difficult it can be to find information on an unknown genetic condition. We see a genetecist and even with her help, we still don't know exactly what is going on. I just try to put all the puzzle pieces together. A helpful site is OMIM. Our geneticist uses this as well. You can enter your features and see if anything comes up. Check it out at http://www.ncbi.nlm.nih.gov/omim/

Good luck!
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replied November 9th, 2009
I also know how difficult it can be to find information on a genetic condition. I dealt with this when my wife and i were pregnant and we had prenatal testing. This actually led me and my genetic counselor to create a website that was written for people, not professionals. It is called AccessDNA and we have information pages on many of the conditions described above.
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replied November 22nd, 2009
I also have many genetic defects and look awful. Last year I attempted suicide twice because of it. I suffer from extreme asymmetry, abdominal trouble as you have mentioned, facial, neurological, endocrinological, and gastrointestinal as well as the immunity problems and a strange phenomenon called deja vous. My entire family has turned on me, everyone I know has turned on me and I have tried everything I can to survive. I am currently being treated for anxiety and depression, but when the "money well" runs dry (and it is quickly) I fear the worst for me.


As a younger person I was skinny and not so attractive and didn't have any friends to speak of. Several times in my life I looked halfway decent but because of the extreme stress I have been in this year my condition gets steadily worse. My own mother told me she didn't care about me and if I wanted to know what was wrong I should "Go look in the mirror." I have one family member left who is presumably "trying" to help me but I don't see how I will make it. The brain damage from the suicide attempts. The fact that I can't find a job because I am (for lack of a better word) ugly. Everyone I have turned to in my life since my condition has worsened, points to one thing I have done wrong and tries to make me look like an evil monster. I have had times when my life was presumably "normal" in the not too distant past but that is over. I fear what will happen to me because I have no insurance. My life has been ruined from my suicide attempts. My credit has been destroyed and my life is destroyed. I hate going out in public because of my appearance and the fact that one of my legs is probably two inches shorter than the other making me stumble and seem to "block" people who walk by me so I hide from the world. It would be nice to see someone smile at me again genuinely. May god bless you and I hope he can help you, as I hope he can help me before I am painted into a corner and end up in an institution or I end up dead. Does anybody out there have any answers? And by the way it is very good to see that there are parents on here trying to take care of their children, unlike my parents who simply ignored the issues and labeled me as trouble.

I have just returned from another state to try to find help from my family. My sister laughed at me, my brother put his fist in my face and my brother in-law pushed me up against a wall and pointed his finger in my face and told me to grow up. Is there some sort of social security benefit for being a genetic defect and surviving suicide? If so I really need to know. I am running out of options and running out of resources fast. I would love to talk to someone who has had a similar issue. I have spent a year doing research and have learned that it IS true that the world doesn't give a rats behind about you if your not healthy and attractive and if you're not healthy or attractive you better have a lot of money, or be highly intelligent.
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replied January 28th, 2010
Lyme Disease or Genetics
I researched bird-like facial features as well at one time. While many of your symptoms could be genetic related, you should also know that Lyme disease can cause many of your symptoms as well. When you mention your teeth, however, the deep grooves in your teeth, that is absolutely particular to congenital syphillis. I haven't yet seen another cause for that although there may be one. It's not one you want to think you have but it can be passed from mother to child. Interestingly enough, Lyme disease, which is from a tick and syphillis both are spirochetal bacteria. I would look into both of those. Igenex is the only lab that can appropriately test you for Lyme disease as there is a huge medical controversy occurring with that.

If you look at genetics then I agree that Marfan's should be on the top of your list. Ehlers-Danlos is another. Many people and doctors think it presents with stretchy skin and joints, but there are types that actually cause vascular problems and one in particular that causes problems with the teeth.

Looking over your symptoms again, with the exception of some of the facial features and possibly the dental, nearly every symptom you have can be caused by Lyme disease. Visit www.ILADS.org for information. Joseph Burrascano, MD has a very detailed list of what Lyme disease can do. It is on that site. If you think there is a chance you have Lyme, and I would say it is definitely a possibility, please watch the movie Under Our Skin. You can see the trailer at Underourskin.com. It's a new documentary on the short list now for the Oscars. It discusses the current controversy in Lyme and just how bad this disease can be. Good Luck!
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replied February 24th, 2011
Gluten intolerance, Candida Abicans (yeast ) overgrowth
To unbelievablelife,

As you stated in your post:
"As a younger person I was skinny and not so attractive. Several times in my life I looked halfway decent, but because of the extreme stress I have been in this year my condition gets steadily worse."

Extreme stress depletes the protein Cysteine, Magnesium and B vitamins sometimes severely. Deficiency of these nutrients can affect each of these stated conditions: "skinny"...."abdominal trouble, facial, neurological, endocrinological, and gastrointestinal"...."anxiety and depression."

I too have had problems in all these areas, but found a common thread, which was Candida Albicans overgrowth in the intestines....having several causes but commonly antibiotic use, or consumption of it in meat/milk without follow up of probiotics to reinstill the proper gut good bacteria, and eating the proper foods to keep them alive..... and an inability to digest gluten. Because gluten and Candida (yeast) appear identical in the way their protein is configured, if an antibody forms against Candida overgrowth, this same antibody will also cause an antibody reaction to gluten as well. (It is called molecular mimicry) The one common denominator to all who have difficulty digesting gluten is a lack of good bacteria in their intestines. If yeast overgrowth exists, it must be eliminated before (NAC)Cysteine or B vitamin supplementation can begin. A comprehensive digestive stool analysis will diagnose a Candida overgrowth problem. If yeast overgrowth exists, buy a book on the problem to help you learn how to starve as well as kill the yeast. Kefir grains can be bought on line to make your own good bacteria culture to reinstill it into your gut @ the initial cost of only buying the water kefir or milk kefir grains, and the medium you use to ferment it. (Determined by your own particular food sensitivities...consume initially only in very tiny amounts like 1/16th of a tsp. work up very slowly as body can tolerate.) If no Candida overgrowth exists, follow strictly a gluten free diet....if possible the Specific Carbohydrate diet.....to determine if gluten/ complex carbohydrate withdrawl helps reduce any of your symptoms. Yeast toxins as well as gluten inflame the gut wall and prevent proper carbohydrate digestion as well as proper absorption of nutrients. Good gut bacteria are necessary for proper carbohydrate digestion as well. Study where gluten hides so you can avoid it completely. Medicines/supplements commonly contain gluten. Buy only gluten free forms. Common diagnostic tests for gluten intolerance can falsely tell you you do not have any problems with gluten. If you do want to have one, do not go off gluten until after your test is over. Please, for you own benefit, irregardless of the test results, avoid gluten as a way for your body to tell you if you have difficulties with it or not. I would now be dead, or at deaths door if I had listened to the results of my gluten test. If you have gluten intolerance, Dr. Oz states that a trial as few as a couple weeks will tell you if gluten withdrawl will help. If you have Celiac disease, a much longer trial is necessary in order for the gut lining to heal sufficiently in order to begin to detect small changes initially in your health.

Your post is 1 yr and 3 months old. I so hope this information will reach you and help you.
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replied February 3rd, 2012
Experienced User
Go fot test with multiple chemical sensitivity. A genetic test with a combination of guidance on diet, supplement strategies, lifestyle changes, and/or drug usage can improve your health outcomes better.
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