Top
40
Doctor insights on: Genetic Dwarfism

Share
1

1
Genetic disorder hht?

Genetic disorder hht?

HHT is genetic: Hht also known as hereditary hemorrhagic telangiectasia is a genetic condition that causes differences in how blood vessels are formed causing so-called arteriovenous malformations (avms) which on skin are called teleangiectasias, thus name of condition. Currently three genes are known to cause it. Nih site has good info: http://ghr.Nlm.Nih.Gov/condition/hereditary-hemorrhagic-telangiectasia. ...Read more

See 1 more doctor answer

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
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

3

3
Are congenital abnormalities genetic?

Are  congenital abnormalities genetic?

Sometimes.: Although it's true that most congenital anomalies (duodenal atresia, ventricular septal defect) have some (currently known or unknown) genetic underpinning, some clearly do not (amniotic band deformation sequence, hydranencephaly, gastroschisis, porencephaly) and some are due to teratogenic exposures unrelated to genetic information (valproic acid, paroxetine, coumadin, (warfarin) enalapril, alcohol). ...Read more

4

4
Is marfan's syndrome a genetic mutation?

Is marfan's syndrome a genetic mutation?

Yes: Yes it is a mutation in the fbn1 gene on chromosome 15. This gene is responsible for providing the instructions for making a protien called fibrillin which becomes part of microfibrils. Microfibrils are important for providing the strength and flexibility of connective tissue. Connective tissue provides strength and flexibility to bones, ligaments, muscles, blood vessels and heart values. ...Read more

See 1 more doctor answer
5

5
Is primordial dwarfism considered a genetic disorder?

Is primordial dwarfism considered a genetic disorder?

Yes: There are several forms of primordial dwarfism. Many are now known to be single gene defects. This includes forms caused by mutations in a gene known as pericentrin. Pericentrin helps with cell division and movement among other functions. ...Read more

7

7
How is the genetic abnormality patau syndrome inherited?

How is the genetic abnormality patau syndrome inherited?

Non-disjunction.: The majority of cases of the lethal patau or trisomy 13 syndrome are caused by nondisjunction (47, +13) related to advanced maternal age. Robertsonian translocations of either parent can increase the risk for that couple, although most affected embryos die in utero. ...Read more

See 1 more doctor answer
8

8
What chromosomal mutation results in alagille syndrome?

What chromosomal mutation results in alagille syndrome?

ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...Read more

See 1 more doctor answer
9

9
Is turners syndrome a genetic disorder?

Yes: Most females are born with 2 x chromosomes. Ts is a disorder resulting from missing one x chromosome or some part of it in the cells of the body. It is a disorder exclusive to females. Those with ts are born with it. Manifestations vary depending on the genetics. Small stature is one feature most girls have in common with each other. ...Read more

10

10
Is kabuki syndrome genetic?

Kabuki syndrome: is a genetically inherited disorder. Here is a link for more information, resources and support: http://ghr.nlm.nih.gov/condition/kabuki-syndrome ...Read more

12

12
Are tumours genetically inherited?

Are tumours genetically inherited?

Can be: Many tumors can and do have a genetic inheritance pattern associated with them. However, many people develop tumors spontaneously without any family history and without any known risk factors. If you have something specific that you would like to discuss please feel free to write to me at: www.healthtap.com/drsaghafi And use Key Code: PDXFNR IF PROMPTED. ...Read more

14

14
Is cystic fibrosis autosomal dominant in genetics?

Is cystic fibrosis autosomal dominant in genetics?

Recessive: Both parents must carry the gene with a 25% chance (1:4) with each conception that the baby will have cystic fibrosis. ...Read more

See 1 more doctor answer
15

15
Is prader willi syndrome hereditary?

Is prader willi syndrome hereditary?

Not typically: Prader willi is most commonly a random genetic abnormality that occurs early in development of fetus. There is usually no history of the disease in the family. ...Read more

See 1 more doctor answer
16

16
Is paraneoplastic syndrome genetic?

No: There is no genetic relationship to the development of a paraneoplastic syndrome. ...Read more

17

17
Is clinodactyly a genetic disorder, birth defect?

Is clinodactyly a genetic disorder, birth defect?

Yes, but .....: Clinodactyly is a curve of one or more fingers, which is pretty common, especially for the pinkies, and no big deal at all. Technically it's a minor birth defect and usually not a sign of any problem. But sometimes it's one component of a rare genetic syndrome, like wahab syndrome (http://omim.Org/entry/615170) or a more common one, like down syndrome. I have a little clinodactyly myself! ...Read more

18

18
Is dyslexia genetic?

Yes, partially: Learning disorders have a small genetic contribution. Therefore, if your parents have/had a learning disorder, you would have a greater chance of also having a learning disorder than someone whose parent did not have a learning disorder but it only increases the odds minimally. ...Read more

See 1 more doctor answer
19

19
Is autism genetic?

Is autism genetic?

Yes and no: ASD without association with known disorders such as Down syndrome, Fragile X, and many others, certainly has an important genetic component, but these same genes associated with autism are also associated with schizophrenia, depression, bipolar, ADHD, OCD, and others responsive to SSRIs, AND highly desirable qualities like musical, artistic, mathematical and other savant traits in the family ...Read more

See 1 more doctor answer
20

20
Is klinefelter's syndrome a somatic or genetic mutation?

More than one x: It is a genetic anomaly in which a phenotypic male has more than one x chromosome, in addition to the y chromosome. The disorder is associated with poor testicular development and infertility, obesity. ...Read more

21

21
Is primordial dwarfism considered a genetic disorder?

Yes: There are several forms of primordial dwarfism. Many are now known to be single gene defects. This includes forms caused by mutations in a gene known as pericentrin. Pericentrin helps with cell division and movement among other functions. ...Read more

22

22
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

23

23
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 is thought affected with Russell-Silver."Born 1931 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

25

25
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

26

26
What number of different types of dwarfism are there?

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

27

27
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

28

28
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

29

29
Is dwarfism caused by a recessive or dominant allele?

It depends: It depends on what one means by dwarfism: a short stature in general (this depends on your ethnic origin as well) or a genetic syndrome which involves extremely short stature as part of the clinical picture. Some of them are dominant = inherited from a parent or rose spontaneously (de novo) in the individual. Some of them are recessive (=parents unaffected carriers of the condition). ...Read more

30

30
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

31

31
What are the complications associated with pituitary dwarfism?

What are the complications associated with pituitary dwarfism?

Pituitary dwarfism: Who in the family has this pituitary dwarfism? Surely you have discussed this condition with a pediatrician at some time. If not, please do so. You will learn a lot and get some comfort. ...Read more

32

32
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

33

33
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

34

34
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

35

35
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

36

36
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

37

37
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

38

38
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

39

39
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

40

40
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