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Genetic defect? symptoms listed? ideas?

Genetic Disorders Forum
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Welcome to the Genetic Disorders Forum - a health community featuring member and doctor discussions ranging from a specific symptom to related conditions, treatment options, medication, side effects, diet, and emotional issues surrounding medical conditions.

Genetic defect? symptoms listed? ideas?

Unread postby HealthForum » Sun Mar 27, 2011 9:22 am

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.


- 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


- 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


- 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)


- 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


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


- Abdominal distention
- Hepatosplenomegaly
- Gluten intolerance


- Susceptibility to infections

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Joined: Sat Mar 26, 2011 7:09 pm

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