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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.
What is a scientific name for dwarfism?
A common scientific name for dwarfism is "achondroplasia." This is a genetic disorder that affects bone growth and results in short stature.
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.
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.
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."
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.
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.
What type of point mutation is dwarfism?
Dwarfism can be caused by a variety of point mutations, including missense mutations that result in a non-functional protein, nonsense mutations that lead to premature termination of protein synthesis, or frameshift mutations that disrupt the reading frame of the gene.
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.
What are all the types of dwarfism?
There are an estimated 200 types of dwarfism. The one most well known is called achondroplasia, in which the person is of short stature and their head is somewhat larger than it should be for their body size. Please see the related link below for more information.
