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Doctor insights on: Genetic Dwarfism

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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

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


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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

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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

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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

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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

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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

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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

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Is dwarfism caused by a recessive or dominant allele?

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

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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