Discussions By Condition: I cannot get a diagnosis.

Freaky physical features

Posted In: I cannot get a diagnosis. 7 Replies
  • Posted By: An anomaly
  • August 14, 2008
  • 04:12 PM

I am curious about the origins of my freaky features. I get a lot of comments (mixed) and have no answers.

Here's the list, I've thrown in a few not so bizarre traits, too, in case they're relevant:
- long limbs but short in the body, my arm span is longer than I am tall;
- elbows don't straighten out, lots of people have tried to force my arms straight to test this one;
- hands, fingers, feet and toes are all long and narrow;
- eye lids are always visible, this is odd because I am Caucasian, I cannot count the number of people (including doctors) who suspect drug use;
- I am very sensitive to light, as a little kid I remember my Mother ordering me to lower my hands and open my eyes for photos, couldn't do it;
- small teeth, my dentist pulled a wisdom tooth and was fascinated by the size and that all four roots grew together instead of poking out in different directions;
- an overbite;
- high cheek bones;
- patch of skin above ears is ‘pixie’ shaped, high and pointy, instead of the normal rounded hairline; and
- very fine hair, I have heaaps of it, but it's so fine that when you hold it in your hand and squeeze it seems amazing that there's enough to cover my head;

I am female, 28 of English, Irish, Scottish, Cornish, Danish and German ancestry.

I've received comments from peers, teachers, doctors, nurses, hairdressers, you name it.

The last doctor I went to see about a cold asked if I was on drugs, then shone a bright light in my eyes and said something about my pupils not reacting the way they should. :confused:

Does anyone know of anything that might explain any of this?

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7 Replies:

  • Could you post a picture of yourself?
    philabuster 5 Replies
    • August 14, 2008
    • 05:16 PM
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  • Most likely, a genetic condition and perhaps a geneticist would evaluate and diagnose properly for you. It sounds like you need an opthalmologist and maybe surgery on your eyelids. Get your hormones evaluate, including thyroid and adrenal function. It could have been an adrenal situation since early childhood.
    Monsterlove 2,921 Replies
    • August 14, 2008
    • 08:24 PM
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  • Interesting features going on there. I'll start doing some searches for you and see if that leads anywhere. hands, fingers, feet and toes are all long and narrow; This is called Arachnodactyly so when you are putting your symptoms into search engines.. use that term http://www.mrcophth.com/hands/commonhands.html#long . It dont sound as if you have Marfan's syndrome as some of your symptoms dont match.. but when i then searched the other suggested common cause for Arachnodactyly.. homocystinuria, interesting something came up which matches another of your symptoms your tight joints.. you have this as you said you cant straighten your arms. Have you been tested for homocystinuria????? It also can give visual problems which often lead to diagnoses (i dont know if that can include light sensitivity?? http://www.nlm.nih.gov/medlineplus/ency/article/001199.htm (quote below) "Definition Return to top Homocystinuria is an inherited disorder that affects the metabolism of the amino acid methionine.Causes Return to top Homocystinuria is inherited in families as an autosomal recessive trait. This means that the child must inherit the defective gene from both parents to be seriously affected.Homocystinuria has several features in common with Marfan syndrome. Unlike Marfan syndrome, in which the joints tend to be "loose," in homocysturia the joints tend to be "tight." Symptoms Return to top Newborn infants appear healthy. Early symptoms, if present at all, are not obvious. Symptoms may occur as mildly delayed development or failure to thrive. Increasing visual problems may lead to diagnosis of this condition. Other symptoms include:Chest deformities (pectus carinatum,pectus excavatum)Flush across the cheeksHigh arches of the feetKnock-kneesLong limbsMental retardationNearsightednessPsychiatric disordersSpidery fingers (arachnodactyly)Tall, thin build http://www.nlm.nih.gov/medlineplus/ency/article/003288.htm
    taniaaust1 2,267 Replies
    • August 15, 2008
    • 02:25 AM
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  • Some other terms which could be helpful light sensitivity medically is called "photophobia" eye lids are always visible, this is odd because I am Caucasian, I cannot count the number of people (including doctors) who suspect drug use; The medical term for that condition is "Ptosis".Description: A drooping of the upper eyelid when the eyes are open; may occur in one or both eyes; may be constant or intermittent. If the condition is congenital, it is usually a failure of the levator muscle to develop; it may be hereditary (dominant). If the condition is acquired, it is usually the result of a mechanical factor (the lid is simply too heavy for the levator muscle to lift it), associated with disease (commonly muscular dystrophy or myasthenia gravis), or paralytic (related to the malfunctioning of the 3rd cranial nerve). If the lid droops enough to partially cover the pupil, the person attempts to compensate by raising the eyebrow and/or by tilting the head back. If the drooping lid obscures the pupil completely, amblyopia can develop. Disease-caused ptosis progresses gradually; neurally associated ptosis has a range of developmental patterns and behaviors, depending on the type of cranial nerve involvement. Treatment: If the condition does not interfere with visual functioning and does not look cosmetically deforming, it is best left untreated. Surgical correction is possible when vision is threatened.
    taniaaust1 2,267 Replies
    • August 15, 2008
    • 02:46 AM
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  • Medical Dictionary: ho·mo·cys·ti·nu·ri·a (hō'mə-sĭs'tə-nʊr'ē-ə, -nyʊr'-)n. An inherited metabolic disorder caused by a deficiency of an enzyme important in the metabolism of homocystine and characterized by the excretion of homocystine in the urine, mental retardation, dislocation of the crystalline lens of the eye, sparse blond hair, and cardiovascular and skeletal deformities. i just found the above (im still trying to find out if all your symptoms can be caused by homocystinuria) so thought i'd cut and paste it as it seems that your sparse which can also be called "fine" hair can also be caused by this condition. Your hair doesnt so happen to be blonde as well????? ..................... but then things get confusing as another site said that people with homocystinuria had coarse hair (with pale skin)........................................ "Patients may develop photophobia as a result of several different medical conditions, related to the eye or the nervous system.MeningitisEye disease, injury, or infection such as chalazion, episcleritis, glaucoma, keratoconusSubarachnoid haemorrhageAlbinismBurns to the eyeMigrainesEncephalitisConjunctivitisAphakiaIritisAniridiaCorneal abrasionCorneal ulcerCataractsRetinal detachmentDilation (naturally or chemically induced)Chiari malformationCystinosisAnticholinergic drugs may cause photophobia by paralyzing the iris sphincter muscle.HangoverChikungunya "homocystinuria can cause retinal detachment which can cause "light sensitivity!" okay so know ive come up with homocystinuria can cause Arachnodactyly (long fingers and toes), fine hair, elbows which dont straighten out and with the things it can cause.. can also cause light sensitivity. Homocystinuria is often caused by genetic issues... (unfortunately i couldnt get up as page didnt exist no more.. an medical article on common eye diagnoses which are missed.. which appeared to have retinal detachment of some degree on it)......................... So that probably concludes this eposide of House..as i now have a headache lol. There was referances to another disorder i came across a couple of times in my searches of your symptoms which i would of liked to further follow up to see what other symptoms were in it.. but i forgot what it was.. it started with a "u"
    taniaaust1 2,267 Replies
    • August 15, 2008
    • 03:57 AM
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  • im still not satifisfied yet that i've possibly came up with the right answer for you.. and remembered i had a medical book on "heritable disorders of connective tissue" .. turned out when i looked at it the first 180 pages are on Marfan syndrome and homocystinuria (it's an old book but it had some more info which i'll quote). - very fine hair, I have heaaps of it, but it's so fine that when you hold it in your hand and squeeze it seems amazing that there's enough to cover my head; I am female, 28 of English, Irish, Scottish, Cornish, Danish and German ancestry. Under prevalence and inheritance (for homocystinuria)"With the exception of a reported American Negro family and three of Jewish extraction in our series, all affected familes have been of Northern European origin-Irish, Scottish, English, Dutch, German, Swedish. The patient of Mudd and colleagues was of Lithuanian origin. One sibship is of mixed southern Italian and Irish-Lithuanian parentage. None of Oriental extraction has been identified but experience is, of course, still limited" anyway i just thought that was interesting to read seeing you mentioned having the same background. This book also agrees with what i read online"The hair is fine, sparse and blond in some cases. The teeth crowded and irregularly aligned". Most of the case studies in the book have hair which is lighter than their parents... is your hair lighter than your parents? I guess having an overbite.. that is "irregularly aligned" Other features this book notes in this condition which i dont know if you may have.. are "face skin being coarse and large pored often in older patients" and many have "intense flushing of the face with exertion in hot weather" . The last doctor I went to see about a cold asked if I was on drugs, then shone a bright light in my eyes and said something about my pupils not reacting the way they should I also read in the book for one (Marfan or the homocystinuria) of those things :( .. i cant find where i read it now (i'll quote if i can find it again).. that pupils often dont react properly to light. So it sounds like you most probably have got one of those issues... too much matches. (If you have homocystinuria.. you'd best get diagnosed ASAP..as it can be quite dangerous condition, well known for causing very early death in some due to complications of it.. ends up causing heart issues). Let us know what you end up discovering...
    taniaaust1 2,267 Replies
    • August 15, 2008
    • 09:25 AM
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  • I agree that you should see a geneticist. As many genetic problems are quite rare, the smattering of suggestions offered on this thread may have nothing to do with what's going on with you.
    aquila 1,263 Replies
    • August 18, 2008
    • 07:56 PM
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