Top
30
Doctor insights on: Achondroplasia

Share
Dr. Letha Mathews
76 Doctors shared insights

Achondroplasia (Overview)

A genetic disorder that causes shortness in height.


1

1
Help! What is achondroplasia?

Help! What is achondroplasia?

Let me help you: Achondroplastic dwarfs have short stature, with an average adult height of 131 cm (4 feet, 3½ inches) for males and 123 cm (4 feet, ½ inch) for females.
The prevalence is approximately 1 in 25, 000. ...Read more

Dr. Letha Mathews
76 Doctors shared insights

Achondroplasia (Overview)

A genetic disorder that causes shortness in height.


2

2
What are the symptoms of achondroplasia?

What are the symptoms of achondroplasia?

Short stature: Short stature
an average-size trunk.
An enlarged head (macrocephaly) with a prominent forehead.
Short fingers. The ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance.
Short arms and legs with particularly short upper arms and thighs.
People with achondroplasia are generally of normal intelligence. ...Read more

3

3
What are the tests for achondroplasia?

What are the tests for achondroplasia?

Dwarfism.: It occurs as a sporadic mutation in approximately 75% of cases (associated with advanced paternal age) or may be inherited as an autosomal dominant genetic disorder.
Achondroplasia can be detected before birth by the use of prenatal ultrasound. A dna test can be performed before birth to detect homozygosity, wherein two copies of the mutant gene are inherited. Also we could use radiology findings. ...Read more

4

4
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

5

5
What are the causes of achondroplasia?

What are the causes of achondroplasia?

Mostly random: Most cases arise from a new mutation to normal parents. Achondroplasia is inherited in autosomal dominant fashion as well. Therefore, couples with achondroplasia marries, they have a 25% risk of transmitting their condition, homozygous achondroplasia, to each offspring. ...Read more

7

7
(recombinant human growth hormone,rhgh) is one solution for achondroplasia treatment?

(recombinant human growth hormone,rhgh) is one solution for achondroplasia treatment?

Short term effects: Some studies conclude that gh might be benefcial in the treatment of short stature in children with
achondroplasia in the first 2 years of treatment. ...Read more

8

8
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

9

9
What is achondroplasia?

Achondroplasia: Birth defect that affects bone growth, leading to Dwarfism. ...Read more

10

10
Help! What is achondroplasia?

Let me help you: Achondroplastic dwarfs have short stature, with an average adult height of 131 cm (4 feet, 3½ inches) for males and 123 cm (4 feet, ½ inch) for females.
The prevalence is approximately 1 in 25, 000. ...Read more

11

11
How common is achondroplasia?

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

12

12
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

13

13
How is achondroplasia inherited?

Autosomal dominant: Achondroplasia is inherited in autosomal dominant fashion. Increased incidence has been observed in offsprings from fathers of advanced age. ...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
What are the tests for achondroplasia?

Dwarfism.: It occurs as a sporadic mutation in approximately 75% of cases (associated with advanced paternal age) or may be inherited as an autosomal dominant genetic disorder.
Achondroplasia can be detected before birth by the use of prenatal ultrasound. A dna test can be performed before birth to detect homozygosity, wherein two copies of the mutant gene are inherited. Also we could use radiology findings. ...Read more

16

16
What are the causes of achondroplasia?

Mostly random: Most cases arise from a new mutation to normal parents. Achondroplasia is inherited in autosomal dominant fashion as well. Therefore, couples with achondroplasia marries, they have a 25% risk of transmitting their condition, homozygous achondroplasia, to each offspring. ...Read more

17

17
What sort of problem is achondroplasia?

Dwarfism: Achondroplasia, is a birth defect resulting in dwarfism. Dwarfs, or little people have this birth defect. It results from a chromosome problem. Those born with this defect can have multiple problems including difficulty breathing, this can be serious and certain types can be fatal. ...Read more

18

18
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

19

19
What are the symptoms of achondroplasia?

Short stature: Short stature
an average-size trunk.
An enlarged head (macrocephaly) with a prominent forehead.
Short fingers. The ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance.
Short arms and legs with particularly short upper arms and thighs.
People with achondroplasia are generally of normal intelligence. ...Read more

20

20
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

21

21
Are there multiple types of achondroplasia?

Fetaure variations: About 90% represent new mutations but in those studied in great detail, all have the same base pair substitution in the gene. The gene regulating a fibroblast growth factor on chromosome 4 is the issue involved. There is some variation in the features of every case as there would be in people with no mutation. ...Read more

22

22
What do people with achondroplasia look like?

What do people with achondroplasia look like?

Short limbs: Achondroplasia, or more commonly known as dwarfism, is one of the more common congenital syndromes. Occurring about 1:28, 000 live pregnancies, people with this syndrome have normally sized trunk with short arms and legs, and a normal to slightly large-sized head. You can find pictures of people with achondroplasia online for a visual answer. Look up www. Garyparker. Com for pix ...Read more

23

23
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

24

24
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

25

25
What is it like having achondroplasia? Is it painful?

Achondroplasia: It causes short stature, small head, hearing loss, dental malocclusion, abnormal facial features, increase fluid in the brain. In adulthood it may cause nerve root compression and sciatica which results in pain. ...Read more

26

26
For how long do people who have achondroplasia live?

Some normal span...: Achondroplasia affects about 1 in 15, 000 to 1 in 40, 000 babies. Most babies born with achondroplasia live a normal life span, but a few may have severe bone problems that can lead to death.

See for more info:
http://www. Marchofdimes. Com/baby/achondroplasia. Aspx. ...Read more

28

28
What are some of the challenges of having achondroplasia?

Spinal stenosis: Achondroplasia may be associated with narrowing of the spinal canal, called stenosis. The constriction of the spinal cord or nerves, if severe, may cause pain and neurologic dysfunction ...Read more

29

29
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

30

30
How long is a person with achondroplasia expected to live?

10 years less: A 2007 study (am j med genet a. 2007 nov 1;143a (21):2502-11.) found that due to cardiovascular and other complications, life expectancy in this disorder is about 10 years less than the average population (so, late 60s). ...Read more