FAQ - fanconi syndrome
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i have fanconi bickel syndrome does anyone else have this or heard of it?

i was diagnosed with glycogen storage disease to start of with but they couldn't fit it into a category, so does anyone else have this syndrome??

There's less than one in a million chance. Anyway, only a few dozen cases have been actually studied. How old are you?  (+ info)

What is the Fanconi-Bickle Syndrome?

How do you get it?
Is it common?
Does it affect a certain population?
What are the symptoms and how is it diagnosed?
How is the disorder treated?

Fanconi-Bickel syndrome (FBS) is a rare inherited disorder of carbohydrate metabolism caused by mutations in the gene known as GLUT2.

Also known as glycogen storage disease type XI, the disease was first described by scientists G. Fanconi and Horst Bickel in 1949. Since then, only a few dozen cases of FBS have been studied, most in the United States, Europe, and Japan.

Onset of FBS is within the first year of life, with the overt symptom being a failure to thrive. At age two, an enlarged liver and kidneys are present and the child has rickets. The incidence of FBS has not been determined but it is believed to occur in less than one in one million births.

Genetic profile
FBS is believed to be an autosomal recessive disorder. This means that an individual with FBS would have to inherit an abnormal copy of the gene from both parents in order to show symptoms of FBS. People with only one abnormal gene are carriers and do not have the disorder. When both parents have the abnormal gene, there is a 25% chance with each birth that their child will inherit both abnormal genes and have the disease. There is a 50% chance each birth that the child will inherit one abnormal gene and become a carrier of the disorder but not have the disease itself. There is a 25% chance each child will inherit neither abnormal gene and not have the disease nor be a carrier. The specific genetic defect of FBS has not been identified.

Since there is so little research on Fanconi-Bickel syndrome, no clear pattern of demographics has been established. However, the disorder is known to affect both males and females. One common thread in some of the cases that have been studied has been consanguinity, meaning that FBS is found in the children of two persons of the same blood relation. In several of these cases the consanguinity is between two first cousins.

Signs and symptoms
In a 1987 study by researchers at the Research Institute for Child Nutrition in Dortmund, Germany, nine cases of Fanconi-Bickel syndrome were compared for clinical symptoms, behavior symptoms, and physical appearance. The initial symptoms reported were fever, vomiting, growth failure, and rickets between the ages of three and ten months. Later, these same patients showed signs of dwarfism, a protruding abdomen, enlarged liver, moon-shaped face, and abnormal fat deposits around the shoulders and abdomen. Also, cutting of teeth and puberty were delayed. Complications present included fractures and pancreatitis (an enlarged pancreas). Later in life, rickets and osteoporosis were constant features.

The German study, whose researchers included H. Bickel, co-discoverer of the syndrome, also used ultrasound to determine increased kidney size and growth in relation to body height. The most prominent finding was glucosuria (glucose, or sugar, in the urine). Polyuria (increased urination) was also a constant finding. The study noted that liver size was normal or slightly increased at birth in all nine cases but became greatly enlarged during infancy. The liver size and glycogen (a glucose storage molecule) content were reduced when the patients were placed on an antiketogenic (high carbohydrate) diet.

Other laboratory findings included fasting hypoglycemia (low levels of sugar in the blood), ketonuria (high levels of ketones in the urine), high hypercholesterolemia (high cholesterol), hypophosphatemia (high phosphate levels in the blood), and high levels of amino acids and protein in the urine. In a 1995 study at Children's Hospital in Philadelphia of an eight-year-old with Fanconi-Bickel syndrome, doctors reported additional symptoms of overworked kidneys, very small amounts of albumin (a class of water soluble proteins) in the urine, and an increase in the number of cells in the inner part of the kidney that filters blood.

Fanconi-Bickel syndrome can usually be identified in patients by neonatal screening for galactose, a type of sugar. Patients with FBS are intolerant to galactose. Other diagnostic factors include an impaired glucose tolerance test, x ray to determine the pattern of rickets, urine tests to measure levels of glycose, phosphates, amino acids, and bicarbonate, and a liver biopsy to detect abnormal galactose oxidation.

Treatment and management
There is no effective treatment for Fanconi-Bickel syndrome. However, some of the symptoms can be treated with adequate supplementation of water, electrolytes, and vitamin D, restriction of galactose, and a diabetes mellitus-like diet (low sugar and low carbohydrate) presented in frequent small meals. These treatments can improve growth and give the patient a general sense of well-being.

The long-term prognosis has not been determined. It may depend on the severity of symptoms and early diagnosis and treatment of symptoms. The first person diagnosed with the disorder in 1949 was a four-year-old Swiss boy with consanguineous parents. At six months, the boy had excessive thirst, constipation, and was not thriving. He was treated with vitamin D and calcium supplements. At about age four, the boy had short stature, a protruding abdomen, an enlarged liver, facial obesity, osteopenia, and hyperlordosis. At age 12, the boy was found to be resistant to glycogen. In 1997 at age 52, the patient, without any treatment other than vitamin D and calcium supplements, was of short stature (4 ft 8 in or 140 cm tall), weighed about 95 lbs (43 kg), had a moderately protruding abdomen, and a smaller than normal liver. Other than arthritis, he had no medical complaints. However, other people diagnosed as children with FBS had much shorter life spans. Long-term follow-up studies of nine persons with FBS showed severely retarded growth, partly compensated for by late onset of puberty.  (+ info)

What is the name of the syndrome that the person may appear to have facial characteristics of down's syndrome?

I previously watched a documentary about sufferers of a syndrome whose facial features appeared to be down's syndrome but it wasn't down's syndrome. The grow to be quite large adults and have special needs. Does anyone know the name of this condition?

Klinefelter syndrome  (+ info)

Are there different types of Down syndrome and what areas of the body does Down syndrome affect? ?

Also, are there any significant statistics related to Down syndrome? Has Down syndrome received any recent attention from the media? Are there any famous people that have Down syndrome.
Answer as many of the above questions as possible.

There are three types of Down syndrome, garden variety Trisomy 21, mosaicism and translocation.

Read more at:

Welcoming Babies with Down Syndrome (English, Spanish, French)

There is a slide show that also incorporates videos of the featured 'More Alike than Different' cast at the National Down Syndrome Congress website:


And great information at the National Down Syndrome Society website:
Down Syndrome Fact Sheet

You might also enjoy

Margaret's Guide to Down Syndrome

For bios of actors with Down syndrome, see:

Down Syndrome and the Acting Gene


DS in Arts and Media


Michael Johnson


Sujeet Desai

Down Syndrome Links at the Family Village website

Check out this recent New York Times article:

The DNA Age: Prenatal Test Puts Down Syndrome in Hard Focus

Have fun with your research!
  (+ info)

What is so bad about having down syndrome?

I think people are a lot colder than they want you to believe. Too many pregnancies prediagnosed with down syndrome are terminated! Doctors tell people that their kid will be like some animal and people believe them. I've met my share of people with down syndrome, and they all seem pretty human to me. On top of that, they were all decent folks, which is a lot more than I can say for the general population. And how does knowing that unborn children are purged because of down syndrome affect those who were born and have down syndrome?

WOW!! I'm so glad that there are other people who's lives have been touched as mine has. See when I was 28 I gave birth to twin girls and one of them was born with Mosaic down syndrome. Of course, I didn't know much about it til now....and yes I was shocked. They are 14 months old now, and such a blessing as well as my two boys. My daughter is about 4 months behind in her milestones, but she is always so happy! Out of all my kids she is the easiest to handle.

It's always nice to have other people, who see that they are more alike, then different from the rest of us.  (+ info)

What is the syndrome called when you cannot feel physical pain?

I remember watching a show a long time ago, and this one little girl was born with a syndrome where she could never feel pain. If she fell on the floor and cut her knee, she wouldn't cry, whereas most children would.

What is this called? Is it a syndrome? Is it a medical condition? I just want to know what it's called, and I can do the research on it.

It is for a story I am writing but I don't entirely know what it is.

It's called "congenital insensitivity to pain"  (+ info)

What syndrome would someone have that the doctor would need to put them on bloodthinners?

My sister is 18 and just moved out here from MN to go to school. She has had many medical problems and been to several doctors. She recently told me that the doctor said there was something wrong with her blood and she needs to be put on blood thinners for the rest of her life. What syndrome could this be?

There are several, but the first that comes to mind is Factor-V (five).  (+ info)

What is the syndrome where boys usually grow more than average?

I think it is Jacobs syndome.. XYY syndrome.. but wikipedia says that is only a little more than average. what is the only where they get really big ?

Yes it is called gigantism. It is caused by a tumour or either a chromosome disorder. Another thing that causes gigantism is the inability to inhib the GH (growth hormone) when it is produced. This is why the people who have it get very TALL.  (+ info)

Adrenal Fatigue Syndrome where in Philippines can i get a help?


I need some help with Adrenal Fatigue Syndrome. My mom thinks she has this Adrenal Fatigue Syndrome and needs a doctor to confirm this. Where in the Philippines can I find help or what type of doctor she should see? Do you know one? Please advice


  (+ info)

What are the chances of my children having Tourette syndrome?

Im planning to have a family in the future. Both of us dont have this syndrome. However, her mother does from her grandpa. Only blinking eyes. What are the chances of passing this on? Also, if it is passed on would it only be blinking eyes or could it be other symptoms of this same syndrome?

Were you aware that there is a National Tourette Syndrome Association? I would suggest contacting them and asking these questions.  (+ info)

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