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Doctor insights on: Congenital Dwarfism

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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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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

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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

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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

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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