Top
30
Doctor insights on: Dwarfism Difference Mutation

Share
1

1
Dwarfism is caused by the mutation of which chromosome?

Dwarfism is caused by the mutation of which chromosome?

Many types: There are many different types, for example, the most common type is achondroplasia which is on the short arm of chromosome 4. ...Read more

Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


2

2
Is there a difference between achondroplasia dwarfism and other types?

Is there a difference between achondroplasia dwarfism and other types?

Yes: Achondroplasia dwarfism is genetic & accounts for 70% of individuals with dwarfism. Growth hormone deficiency & other medical consitions are other potential causes of dwarfism. ...Read more

3

3
What is the difference between gigantism or dwarfism?

What is the difference between gigantism or dwarfism?

Gigantism/ dwarfishm: Gigantism = abnormal increased growth due to presence of too much growth hormone in childhood. Dwarfism involves short stature. (4 feet 10 inches or less) ...Read more

4

4
What is done to diagnose dwarfism?

What is done to diagnose dwarfism?

Prenatal ultrasound.: Screening with prenatal ultrasound is one way to screen for certain types of dwarfism that could potentially be lethal. Prenatal screening and diagnosis are primarily performed in the second trimester, but late first trimester fetal structural assessment is becoming more common with advances in transvaginal ultrasound imaging and the widespread use of first trimester screening for down syndrome. ...Read more

5

5
What race is mostly affected by dwarfism?

Dwarfism: Good wikipedia question and go to uptodate. I also recommend you learn to us pubmed. Com to help with your research. ...Read more

6

6
How many cases of dwarfism are found in the world?

How many cases of dwarfism are found in the world?

Dwarfism: Dwarfism could be any of a number of conditions that limit growth, but most people refer to achondroplasia when the describe dwarfism.

Achondroplasia takes place in one birth per 25, 000 births. ...Read more

7

7
What is the definition or description of: dwarfism?

What is the definition or description of: dwarfism?

Dwarfism: It occurs when an individual person or animal is short in stature resulting from a medical condition caused by abnormal (slow or delayed) growth. In humans, dwarfism is sometimes defined as an adult height of less than 4 feet 10 inches (58 inches or 147.32cm). ...Read more

8

8
What exactly is achondroplasia dwarfism?

Achondroplasia: ... is a form of short-limbed dwarfism. It's a genetic condition that affects the long bones. Although it is heritable, most children with the condition (up to 80%) have parents with normal stature and have achondroplasia as a result of new ("de novo") genetic mutation. The incidence is about 1 per 26, 000 live births. Intelligence and life span are normal. ...Read more

9

9
Is osteochondrodysplasia the cause of dwarfism?

Yes it could: Osteochondrodysplasias are a group of hereditary disorders in which bone or cartilage grows abnormally, so that the skeleton develops abnormally. Many types of osteochondrodysplasia cause dwarfism. Achondroplasia is the most common of the many types of short-limbed dwarfism. ...Read more

10

10
Does primordial dwarfism affect the mental capabilities?

Does primordial dwarfism affect the mental capabilities?

Many diagnoses: Primordial dwarfism means that medicine has not found a cause for such, so it is a basket category that might encompass many different conditions that will be further categorized as our genomic knowlege improves. Most children with primordial dwarfism do have low IQ, but some postulate thatbthis might be related to emotional retardation for not being considered as "full grown". ...Read more

11

11
How many cases of primordial dwarfism are found worldwide?

About 200: Primordial means we do not know the specific cause, about 200 sub-types have been described in medical literature. With the genome project many of this causes will gradually come to light. ...Read more

12

12
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

14

14
What is primordial dwarfism and can people that have it function normally in society?

Many diagnoses: Primordial dwarfism means that medicine has not found a cause for such, so it is a basket category that might encompass many different conditions that will be further categorized as our genomic knowlege improves. Most children with primordial dwarfism do have low IQ, but some postulate thatbthis might be related to emotional retardation for not being considered as "full grown". ...Read more

15

15
They think baby may have dwarfism. How likely is this true? Are the symptoms easy to spot and hard to misdiagnose. Please let me know, worried!

They think baby may have dwarfism. How likely is this true? Are the symptoms easy to spot and hard to misdiagnose. Please let me know, worried!

Dwarfism: Is easy to detect in the nursery. The arms and legs are proportionally shorter that the head and torso. If this is what you see in your child, consult your pediatrician. ...Read more

16

16
What is the gene or chromosome that causes dwarfism?

What is the gene or chromosome that causes dwarfism?

Genes on chromosomes: The knowledge of the osteochondrodystrophies causing dwarfism has in some cases reached the molecular level. There are dozens of different kinds. Some are much better elucidated than others. In some, therapy has become available. ...Read more

17

17
What causes dwarfism?

What causes dwarfism?

Often gene mutation: According to the mayo clinic most cases of dwarfism are genetic (gene mutation) in nature however sometimes the cause is not known. ...Read more

18

18
Can you tell me about dwarfism?

Can you tell me about dwarfism?

Dwarfism: There are multiple types of dwarfism: achondroplasia, diastrophic dysplasia, spondylo-epiphyseal dysplasia (SED), pseudoachondroplasia, hypochondroplasia, & osterogenesis imperfecta. Dwarfish is "An adult, height of 4 ft. 10 in. Or under, as the result of a medical or genetic condition." per LPA. ...Read more

19

19
What are the symptoms of dwarfism?

What are the symptoms of dwarfism?

Little people: Adult under 4 feet 10 inches and they are classified according to cause and proportionality of body parts. ...Read more

20

20
What can you tell me about dwarfism?

Dwarfism: There are multiple types of dwarfism: achondroplasia, diastrophic dysplasia, spondylo-epiphyseal dysplasia (SED), pseudoachondroplasia, hypochondroplasia, & osterogenesis imperfecta. Dwarfish is "An adult, height of 4 ft. 10 in. Or under, as the result of a medical or genetic condition." per LPA. ...Read more

21

21
Mildest form of dwarfism, what is it?

Mildest form of dwarfism, what is it?

Several possible: The most common is familial short stature. The Little People of America define it as 4'10". The great jockey Willie Shoemaker was affected with a form of Russell-Silver. "Born in Fabens, Texas Willie Shoemaker is the most successful jockey in history. He won his first race at 18. By the time he retired in 1990 he had won 8, 833 races, including 4 Kentucky Derbies, 5 Belmont Stakes, and 4 Preakness. ...Read more

23

23
How has our understanding on dwarfism progressed?

How has our understanding on dwarfism progressed?

Enormously: The knowledge of the osteochondrodystrophies causing dwarfism has now reached the molecular level. Some are much better elucidated than others. In some, preventive therapy has become available. You may check of each entity, perhaps starting with Online Mendelian Inheritance in Man--OMIM. Org ...Read more

24

24
What number of different types of dwarfism are there?

Dwarfism: There are multiple types of dwarfism: achondroplasia, diastrophic dysplasia, spondylo-epiphyseal dysplasia (SED), pseudoachondroplasia, hypochondroplasia, & osterogenesis imperfecta. ...Read more

25

25
When was dwarfism brought to attention and who discovered it?

When was dwarfism brought to attention and who discovered it?

Ancient: This has been known long before writing. One of the first pharaohs had a dwarf as his entertainer, and dwarfism has enjoyed a mystique in many cultures, even being seen as desirable. ...Read more

26

26
How could 2 people of normal height have an offspring with dwarfism?

Yes: Approximately 80% percent of achondroplastic dwarfs have average-size parents due to new mutations of the FGFR3 gene. ...Read more

27

27
Please help! What is the proper medical term for the afflictioon that causes dwarfism?

Short stature: There are literally hundreds of causes (or afflictions) of dwarfism. One of the most common is achondroplasia but that is not the only one. ...Read more

28

28
My nephew is in the 2nd percentile for height at one year but always been short.42nd percentile for weight. Could he have a growth issue? Dwarfism?

My nephew is in the 2nd percentile for height at one year but always been short.42nd percentile for weight. Could he have a growth issue? Dwarfism?

Genetic Height?: The key here is his parents heights. Take the average of his parents height, and add 2 for a boy. Where does this fall? Is it at the low end? Another factor is both parents puberty patterns. Were they late bloomers? This can be another cause. Should be evaluated at his one year checkup! ...Read more

29

29
If 2 ppl, woman (156cm) and man163cm)marry, does this yield a possibility of dwarfism for their children or may result in children being shorter thn thm?

If 2 ppl, woman (156cm) and man163cm)marry, does this yield a possibility of dwarfism for their children or may result in children being shorter thn thm?

Not really dwarfism: That's a 5'1" woman and 5'4" man... Both shorter than average but in the normal range for people. "shorter than average" is not related to dwarfism, because dwarfism is usually due to a genetic problem. Without some type of defect, such normal heights should not be a factor in deciding to marry and have children, unless a parent would have some sort of psychological problem from having short kids. ...Read more

30

30
How do you test for dwarfism or "little people"?

X-rays and physical: Usually with a skeletal series, (X-rays of several body parts) and a physical exam by a genetics physician. There is also genetic testing available ...Read more

Find us on Facebook