What is achondroplasia (Dwarfism)?
Achondroplasia (also called dwarfism) is an inherited disorder in which the formation of cartilage in the long bones is disturbed, causing develops no normal growth plate.
Symptoms of achondroplasia (Dwarfism)
In humans, this leads to a characteristic form of dwarfism, wherein the subject remains small, with a normal body size but with very short and stubby limbs. The achieved average body length is about 1.20 m, with peaks both upwards and downwards. The skull also often has a less conspicuous but characteristic shape and the spine can develop a strengthened lordosis and / or kyphosis sometimes causing spinal canal stenosis occurs later in life. Patients often suffer from hydrocephalus and ear infections than average by anatomical differences from unaffected people.
Heredity
The site of the genetic defect has been localized: the disorder is the result of a mutation in the gene for fibroblast growth factor receptor 3 (FGFR3). 99% of the cases is explained in part by a total of two different mutations, one of which is 98% and a 2% of the total. There are a few related disorders that are also caused by a defect in the FGFR3 gene, hypochondroplasia and thanatofore dysplasia.
The disorder is inherited autosomal dominant, which means that the children of a patient's chance of half themselves have to be affected. Having two affected genes before birth or shortly after deadly; the chances of this'd seen the rarity of the disease (approximately 1 per 20,000 to 40,000 births) are not great but for people with this condition quite often marry someone who has the same condition. In such a case, there is 25 percent chance with each pregnancy at a normal child, 50% for a child with the disorder, and 25% chance of an early miscarriage because the fetus has inherited both genes, in addition to the normal force at every opportunity miscarriage. Even when one parent is normal, the chance of a child with the abnormality is still 50% (against a 50% chance of a normal child).
Effects
The effects, except for the obvious small stature, on the psyche of it are very recognizable in this way are large. These people usually find it annoying to extremely annoying as 'dwarf' to be indicated. 'Little people' currently preferred but stores more categories; "achondroplast" is the medical term as specifically this group is meant, and "people with achondroplasia 'sounds than in the ears of many, yet again somewhat friendlier.
Dwarfism / Achondroplasia treatment
Causal treatment is not possible. Limb Lengthening operations are possible but the result in terms of absolute increase in length is limited and is usually considerable and prolonged painful. Yet some are willing to 5 to 10 cm more length to undergo such treatment, not only for cosmetic reasons, but also because a relatively small increase in height daily functioning is easier.
Prenatal diagnosis
It is possible to detect the disease before birth by checking the fetus through an ultrasound, then the parents might decide to do an abortion. This is an important ethical issue. Affected individuals have normal intellectual development and a normal life expectancy. The suffering achondroplasia may entail is rather caused by the 'being different from others', than by the disease or complications of the disease itself. There are so beside proponents also fierce opponents.
Little people in mythology and art
In many myths and ancient stories and modern variants, for example in the fiction of Tolkien and Terry Pratchett-often play dwarfs a role. At these characters is often small and robust stature of Achondroplasia recognizable. In the film for special effects often actors with Achondroplasia deployed, especially in fairy tales and fantasy movies (e.g. Willow, Charlie and the chocolate factory, Time Bandits). Also get them often roles because of the comic effect, for example in Austin Powers. Written by Arthur Japin in the book ' the great world ' is the life of a small man at the beginning of the 20th century.
Images of dwarves were already in Roman times. The Romans images dwarfs with overly large genitals. Come in expurgated form images of dwarfs in the renaissance back in the repertoire of the garden statues. One of the oldest copies is in the Boboli Gardens in Florence. In Germany we find portraits of dwarfs back into the residence of Würzburg, where citizens, suppliers and non-noble persons to the Court as musicians, as dwarfs are depicted, and Salzburg. The feudal and absolute rulers enjoyed themselves with the image of their nationals as impotent dwarf. The Salzburg garden statues stand model for the later garden dwarfs of the 19th-century civil culture. Only in the 20th century went all garden and garden gnomes dwarves on Disney figurines seem.