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What is an achondroplasic?
An achondroplasic is a person who has achondroplasia, a genetic disorder which is the most common form of short limb dwarfism.
What type of point mutation is dwarfism?
One type of dwarfism that is a point mutation is achondroplasia.
What is the heredity cause for achondroplasia?
Mutations in the FGFR3 gene are the cause for achondroplasia (short-limbed dwarfism).
What is the medical term meaning dwarfism?
Achondroplasia is the medical term for dwarfism with cartilage problems.
Is dwarfism located on a particular chromosome?
Many inherited disorders in humans are controlled by a single gene. Achondroplasia is a form of dwarfism. About one out of 25,000 people has achondroplasia. The homozygous dominant genotype causes death of the embryo, and therefore only heterozygotes, individuals with a single copy of the defective allele, have this disorder. This also mean that a person with achondroplasia has a 50% chance of passing the condition on to any children. Achondroplasia is a recessive allele.
How can you get Achondroplasia?
Achondroplasia, or Dwarfism, is a genetic disorder, both handed down and mutagenic. Quoted from Wikipedia: "Achondroplasia is a result of an autosomal dominant mutation in the fibroplast growth receptor gene 3 (FGFR3), which causes an abnormality of catilage formation."
Why does dwarfism occur for humans?
Dwarfism occurs for a number of reasons. The most common causes are achondroplasia and growth hormone deficiency. The latter can be treated with exogenous growth hormone.
Can Achondroplasia affect a person's lifespan?
No. Although types of dwarfism, and their severity and complications, vary from person to person, in general a child's life span is not affected by dwarfism. (:
Who is considered a legal midget?
There is no such thing as a legal midget.The word midget is considered to be offensive and is normally used to describe someone with dwarfism. Dwarfism is a genetic condition. Unless you suffer from a gene mutation like achondroplasia, you are not a dwarf ... legal or illegal.
How many people are dwarfs?
A dwarf is defined as a person being of less height than 147cm (4 feet, 10 inches).The most common causes to dwarfism are Achondroplasia and Growth Hormone Deficiency (GHD) which account for about 70% of all cases of dwarfism. The prevalense of adults with Achondroplasia is approximately 1 in 25.000. The prevalense of adults with GHD is approximately 1 in 100.000.Source: Wikipedia
What is achondroplasia?
Achondroplasia is characterized by abnormal bone growth that results in short stature with disproportionately short arms and legs, a large head, and characteristic facial features with frontal bossing and mid-face hypoplasia.
How do you tell if your child is a dwarf?
Dwarfism can be diagnosed by X-rays to show a short stature at a later time in pregnancy. Dwarfism's scientific name is Achondroplasia. Another symptom is the box feet on an infant. The prevalence rate in Dwarfism in about 1 in every 40,000 new born infants every year.
