mcrh.org
*Home>>>Achondroplasia

Who does achondroplasia affect?


Who does achondroplasia affect?

It's a genetic condition that in general, will occur in half of the children of those who have achondroplasia.

What is the cause of achondroplasia?
Achondroplasia is caused by a mutation in a gene (called fibroblast growth factor receptor 3) that is located on chromosome 4 (6, 7). In a minority of cases, a child inherits achondroplasia from a parent who also has the condition. If one parent has the condition and the other does not, there is a 50 percent chance that their child will be affected. If both parents have achondroplasia, there is a 50 percent chance that the child will inherit the condition, a 25 percent chance that the child will not have it, and a 25 percent chance that the child will inherit one abnormal gene from each parent and have severe skeletal abnormalities that lead to early death. (When both expectant parents have achondroplasia, they are usually offered prenatal tests to diagnose or rule out this fatal form of the disease.) A child who does not inherit the condition cannot pass it on to his or her own children.

In more than 80 percent of cases, however, achondroplasia is not inherited but results from a new mutation that occurs in the egg or sperm cell that forms the embryo(4). The parents of children with achondroplasia resulting from a new mutation are usually normal sized. Typically, these parents have no other children with achondroplasia, and the chances of their having a second affected child are extremely small.

Geneticists have observed that older-than-average fathers (age 40 and older) are more likely to have children with achondroplasia and certain other autosomal dominant conditions (disorders that occur when one gene in a gene pair is abnormal) caused by new mutations. Individuals with achondroplasia resulting from new mutations transmit the disorder to their children as described above.

Can achondroplasia be prevented?
There is no way to prevent the majority of cases of achondroplasia because they result from totally unexpected gene mutations in unaffected parents. Genetic counseling can help adults with achondroplasia and unaffected individuals who have had an affected child make informed decisions about family planning.

its a defect in the formation of cartillage.

Tags
  Acupuncture   Acromegaly   Acoustic Neuroma   Acne   ACL   Acid Reflux   Achondroplasia   Achilles Tendon Injuries   Abscesses   Abortion   ABO   Abnormalities   Abdominal Pain
Related information
  • What is Achondroplasia?

    Greenberg Center for Skeletal Dysplasias Achondroplasia Achondroplasia is the most common form of short-limb dwarfism. It occurs in approximately 1 in 26,000 to 1 in 40,000 births. The characte...

  • Who discovered achondroplasia?

    Not recorded in history. The gene that causes achondroplasia was discovered by Dr. John Wasmuth and his colleagues in 1994.

    ...
  • In achondroplasia, where is the mutation found?

    FGFR3 gene Diagnosis/testing. Achondroplasia can be diagnosed by characteristic clinical and radiographic findings in most affected individuals. In individuals who may be too young to diagnose ...

  • Has anybody heard of a genetic disorder called achondroplasia?

    achondroplasia - Improper development of cartilage at the ends of the long bones, resulting in a form of congenital dwarfism.

    ...
  • Is there more than one type of achondroplasia?

    There are some genetically related disorders including: Hypochondroplasia FGFR-related craniosynostosis Thanatophoric dysplasia SADDAN dysplasia=Severe achondroplasia

    ...
  • I'd like to know more about Achondroplasia (a common type of Dwarfism). Is there a forum online?

    try www.webmd.com alot of answers are there. if that doesnt help go to your local hospital and ask where you may find info on it, and if there is support groups in your area for it. good luck

    ...
  • Who are some famous people with achondroplasia??

    Dwarfism! Little people! They guy that plays Mini-Me on the Austin Powers movies The family on "Small World" coming up this fall That actor in "Elf" that is mistaken by El...

  • How long do people who have achondroplasia live ?

    Achondroplasia is a genetic disorder of bone growth that is evident at birth. It affects about one in every 25,000 births and it occurs in all races and in both sexes. Its depiction in ancient Egyp...

  •  

    Categories--Copyright/IP Policy--Contact Webmaster