FAQ - Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
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I need to find pictures for a presentation on hypohidrotic ectodermal dysplasia?


Did you check "Google Images"? It seems to always work for me! I have to do quite a few presentations in school and have never had a problem getting any image! Good Luck!  (+ info)

Hypohidrotic ectodermal dysplasia?


Does anyone know when hypohidrotic ectodermal dysplasia was discovered? please include your resources. Thank you!!!
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Anna - X-linked anhidrotic (hypohidrotic) ectodermal dysplasia (EDA; MIM 305100) is one of the more common types of over 150 clinically distinct hereditary ectodermal dysplasias. It is characterized by sparse hair, abnormal or missing teeth, and an inability to sweat due to the lack of sweat glands (Freire-Maia & Piñeiro 1994).

Ferguson, BM, Thomas, NST, Munoz, F, Morgan, D, Clake, A, Zonana, J: Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. J Med Genet 1998 35: 112–115, | PubMed | ISI | ChemPort |
Freire-Maia, N, Piñeiro, M: Ectodermal dysplasias: a clinical classification and a causal review. Am J Med Genet 1994 53: 153–162, | PubMed | ISI | ChemPort |
Kere, J, Srivastava, AK, Montonen, O: et al: X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nature Genet 1996 13: 409–416, | Article |  (+ info)

ectodermal dysplasia?


I am 25 and I have ectodermal dysplasia. its a condition where a person is born with mouth, skin and hair deformities. luckily I only have a problem with my teeth. Unfortunatly all of my teeth are baby teeth. yep thats right, I have no adult teeth. if I lose my teeth I dont grow permanant ones in thier place. the teeth I have right now are the same ones I had at age 2. does anyone know of any dentists who are looking to use somone as a guinea pig or practice for implants or other elective (but in my case very necesarry) procedures
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I have dental implants and I too have a dental birth condition. Mine however is where I had too many teeth. Between the baby teeth and permanent teeth there are tons of extra teeth. More like bone things made out of tooth material. My conditon is called cleidocranial dysplasia.

I have dental implants and the poster before me whether a nurse or not has no clue what those of us who have never had a beautiful smile feels.
Getting implants isn't a horrible procedure either. In fact not bad at all. Lengthy? After never having a beautiful smile 5 months to me wasn't lengthy but so very worth it.


As to who to tell you to call? Maybe a dental university. They study people with different conditions. My prosthodontists have treated people with your condition as well. I will give you a link to someone who has your condition and you can see what they did for them. Feel free to send me an e-mail.  (+ info)

Ectodermal Dysplasia?


The ectodermal dysplasias (EDs) is a large, heterogeneous group of inherited disorders due to primary defects in the development. The tissues primarily involved are the skin, hair, nails, eccrine glands, and teeth.
The ectodermal dysplasias are congenital, diffuse, and nonprogressive.

To date, more than 192 distinct disorders have been described. The most common ectodermal dysplasias are X-linked recessive hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome) and hidrotic ectodermal dysplasia (Clouston syndrome).

The frequency of the different ectodermal dysplasias in a given population is highly variable. The prevalence of hypohidrotic ectodermal dysplasia, the most common variant, is estimated to be 1 case per 100,000 births.
Beyond early childhood, life expectancy ranges from normal to slightly reduced  (+ info)

If two carriers for a certain autosomal recessive condition have a child, what is the probability that they wi


If two carriers for a certain autosomal recessive condition have a child, what is the probability that they will have a child with the disease?
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Let X be the number of recessive genes the child gets. X has the binomial distribution with n = 2 trials and success probability p = 0.5

In general, if X has the binomial distribution with n trials and a success probability of p then
P[X = x] = n!/(x!(n-x)!) * p^x * (1-p)^(n-x)
for values of x = 0, 1, 2, ..., n
P[X = x] = 0 for any other value of x.

The probability mass function is derived by looking at the number of combination of x objects chosen from n objects and then a total of x success and n - x failures.
Or, in other words, the binomial is the sum of n independent and identically distributed Bernoulli trials.

X ~ Binomial( n = 2 , p = 0.5 )

the mean of the binomial distribution is n * p = 1
the variance of the binomial distribution is n * p * (1 - p) = 0.5
the standard deviation is the square root of the variance = √ ( n * p * (1 - p)) = 0.7071068

The Probability Mass Function, PMF,
f(X) = P(X = x) is:

P( X = 0 ) = 0.25 <<< non carrier
P( X = 1 ) = 0.5 <<<< carrier
P( X = 2 ) = 0.25 <<<< has the condition  (+ info)

A child with the autosomal recessive disease?


A child with the autosomal recessive disease, cystic fibrosis, was born to two phenotypically normal individuals. What are the genotypes of the two parents and the child? Use C as the normal allele and c as the disease allele.
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Both parents are carriers. Their genotypes are Cc Cc. They do not have the disease.
Any children they have can have one of the following genotypes:
CC
Cc
cc
The child with cystic fibrosis has the cc genotype.   (+ info)

What does autosomal dormant mean? What about autosomal recessive?


I've been looking on websites for the answer, but I dont understand the definitions, please help me out!
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Ok firstly, there are 2 types of heredity. Autosomal and sex-linked. Sex-linked indicates that the gene in question is located on the X or (very unlikely) the Y chromosome. All other genes that are not located in the sex chromosomes are called "autosomal". Now that we've got this clear, I think dominant and recessive should be quite easy for you.
In case you are still unsure, "dominant" refers to alleles which can be expressed in both the homozygous and heterozygous conditions. "Recessive" alleles can only be expressed in the presence of another identical allele (ie. in the homozygous condition).
Hope I cleared it up for you!:)  (+ info)

Is high cholesterol autosomal dominant or autosomal recessive or is it sex linked?


Hope this helps;

Autosomal Dominant Inheritance
If a parent has the gene for an autosomal dominant condition, there is a 50 percent chance (a one-in-two chance) that each child will have the same condition. Dominant disorders often are quite variable, with symptoms ranging from none to severe.

Some conditions passed on through autosomal dominant inheritance include familial high cholesterol.  (+ info)

is high cholesterol autosomal dominant or autosomal recessive or is it sex linked?


if it is sex linked...which chromosome x or y?
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hypercholesterolemia is autosomal dominant, it is NOT sex linked.  (+ info)

Is Crohn's an autosomal dominant disease or autosomal recessive disease?


Can't find it in a master list of either classification online. Only things I can find online are definitions of the two, of Crohn's, but not of which class it belongs.

Thanks!
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hi double, as a fellow crohn's pt. if you check out the Crohn's & Colitis foundation's site, you will find everything you need to know. There is a live chat, a hotline you can calll, as well as an open forum where you can post your questions to others who have CD.

hope this helps.  (+ info)

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