Top
20
Doctor insights on: Punnett Square Gene Disorder For Achondroplasia

Share
1

1
What chromosomes cause the genetic disorder achondroplasia?

What chromosomes cause the genetic disorder achondroplasia?

FGFR3 gene: Achondroplasia is a mutation in the fibroblast growth factor receptor 3, which is an inhibitor that regulates bone growth. In cases of achondroplasia, the fgfr3 gene is too aggressive, negatively impacting bone growth. ...Read more

Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


2

2
Can you tell me if you've seen anyone with a genetic disorder called achondroplasia?

Can you tell me if you've seen anyone with a genetic disorder called achondroplasia?

Achondroplasia: Achondroplasia occurs in 1/15, 000 to 1/40, 000 births and results in a defect in the cartilage formation. This is a common cause of dwarfism. The condition, achondroplastic dwarfism occurs frequently. The patients are generally. ...Read more

4

4
Have one girl 6 yrs, normal, aborted in boy 20 weeks, thanataphoric achondroplasia, I read it is gene mutation, how much risk of recurrence, possiblity?

Have one girl 6 yrs, normal, aborted in boy 20 weeks, thanataphoric achondroplasia, I read it is gene mutation, how much risk of recurrence, possiblity?

No difference: Sorry to hear that. Risk of recurrence for parents who have had one affected child is not significantly increased over that of the general population.

http://www. Ncbi. Nlm. Nih. Gov/books/NBK1366/ ...Read more

5

5
Who knows about achondroplasia?

Dwarfism: About 1 in 20, 000 births. Genetic defect causes poor bone growth. Affected persons have a large head with small bones in the mid face. The arms and legs are short, but the trunk is long. Intelligence is usually normal, but walking is often delayed. They can have problems with the spinal cord being compressed. They can have children, but there is a high risk >50% of passing the defect to offspring. ...Read more

7

7
Should I be concerned if my friend is suffering from achondroplasia, wht is his percentage of diasability?

Should I be concerned if my friend is suffering from achondroplasia, wht is his percentage of diasability?

Can be a plus: I know a couple of achondroplastic dwarves and they like it -- one is an orthopedic surgeon treating other dwarves. He dislikes being called "handicapped / disabled". Let your friend decide how he/she feels about it all, and accept whatever she chooses. She's already gotten advice about how her being a dwarf affects accommodations that others must make in the workplace. ...Read more

8

8
Which limitations do you have when you have achondroplasia (dwarfism)?

Achondroplasia: Beyond the obvious limitations of small stature (being short) achondroplasia can lead to severe respiratory problems that can lead to death, also joint and spine problems including twisting of the spine. ...Read more

10

10
Can any doc tell me what's it like having achondroplasia?

Achondroplasia: I would suggest a better way to answer this question is to go to web sites that deal with achondroplasia and speak with adults who have this disorder and find out from them what it is like to live with this disorder. ...Read more

11

11
How can stem cells help achondroplasia?

How can stem cells help achondroplasia?

Possibly: Check out Regenexx. Com for more details. ...Read more

12

12
Can normal size parents have a child with achondroplasia?

Yes: An estimated 90% of cases represent new mutations & the child is born to normal parents. ...Read more

13

13
How common is achondroplasia?

1:25000: The prevalence is approximately 1 in 25, 000. It is a common cause of dwarfism however. ...Read more

14

14
How can someone get achondroplasia.?

Achondroplasia: This is a genetic condition and can not be acquired. One is born with achondroplasia. ...Read more

15

15
Who/what is achondroplasia named after?

Words: Achondroplasia is just a descriptive term. The plasia refers to growth, chondro to the basic cells the build the precursors of bone and "a" to signify without or abnormality of. These are word building blocks from the greek language. ...Read more

16

16
Help me out here: what is achondroplasia?

Dwarfism:: Most people with short-limb dwarfism have achondroplasia. Bones grow mostly by making a plate of cartilage near the joint; people with achondroplasia cannot make cartilage, and their long bones grow very slowly. ...Read more

See 1 more doctor answer
17

17
How tall can someone with achondroplasia grow?

How tall can someone with achondroplasia grow?

Ir depends: Growth and head circumference measurements plotted on growth curves standardized for achondroplasia. It can be different for individual cases, gender, genetics. ...Read more

18

18
Where to get information about achondroplasia?

Apparently here: Achondroplasia is the most common type of dwarfism. A good reference for information is the little people society of america http://www. Lpaonline. Org/ particularly if you or a family member is having a child affected by it. ...Read more

19

19
What is the definition or description of: Achondroplasia?

Abnormal bone growth: That is caused by a mutation affecting fibroblast growth factor and results in shortened bones. It is one of the major causes of dysproporotinate dwarfism. The mutation can be spontaneous, especially in advanced paternal age, or inherited as an autosomal dominant. It especially affects the proximal limb bones, prominent forehead, increased lordosis or kyphosis and either bowed or knock knees. ...Read more

20

20
What is the technical and colloquial word for achondroplasia?

Short: Achondroplasia is a disorder of bone growth that causes the most common type of dwarfism. Symptoms: the typical appearance of achondroplastic dwarfism can be seen at birth. ...Read more

See 1 more doctor answer

Gene (Definition)

A hereditary unit consisting of a sequence of dna that occupies a specific location on a chromosome and determines a particular characteristic in an organism. Genes undergo mutation when their dna sequence ...Read more


Dna (Definition)

Dna are the coding molecules found in all living things on earth which contain the instructions on how to build living things. Its is comprised the nucleotide molecules which are ...Read more