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
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
Genetic Disorder in the Kidney Posted: 06-25-08 18:20pm
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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This page was last updated on June 11, 2008
