What is achondroplasia?

Achondroplasia is a type of dwarf caused by the inheritance of a mutated gene or a direct gene mutation. Since the cartilage cannot create properly, bones cannot grow as it would normally. This results in bone failure to achieve the normal size of adults. Most with achondroplasia reaches a height of about four feet (1.21 m) in adulthood.

Achondroplasia is called a autosomal dominant state, because people need to inherit only one gene mutation to cause the condition. Thus, one parent with achondroplasia has a 50% chance to pass the gene to each child. Inheritance of two genes for achondroplasia is fatal.

If both parents have achondroplasia, they have a 25% chance to pass two of the mutated genes to each child. Two inherited genes for achondroplasia usually cannot be survived. Unfortunately, children who inherit two mutated genes die at birth or shortly there. Obviously do not have a gene because the transport of a gene would meanLo that they would have a condition. In rare cases, the gene can mutate itself and create a condition. Studies have shown that this is related to the mutations of sperm cells from the father. Such mutations become more common, as men believe.

Achondroplasia is not quite common. It is present in all races at about 1 in 20,000 to 40,000 birth. This is 0.005% - 0.0025% of the general population. It remains a difficult but relatively rare condition.

In general, achondroplasia can be diagnosed in the uterus through testing of genetics at the beginning of pregnancy because the responsible gene was identified. Furthermore, ultrasound in the second half of pregnancy shows signs of achondroplasia. In particular, the length of the femurus its width disagrees with how pregnancy progresses.

Diagnosis after birth is performed by physical examination and X -ray, which shows developmental problems with many bones. Adult with achondroplasia may be recorded by JehAbout a short figure, leaning, relatively large head, but a small nose, curvature of the spine and short fingers and fingers. Although the situation often brings undesirable comments from insensitive people, it is not life -threatening.

There are several complications common to those with achondroplasia. They may have slightly delayed development as children and are quite susceptible to ears infections. Some children have an increased risk of developing hydrocephalus or brain water. In addition to these complications, which are present in many without achondroplasia, the condition usually leads to the same life as those without a gene.

Recently, doctors have started trying surgery and/or medicines to help those with Achondremoplasia will reach a greater height. These operations include surgery of bone extension that disrupts the bone and then stimulates re -increased to achieve a higher figure. In addition, some doctors experiment with the use of human growth hormone on people with achondroplasia to attempt more growing potential. These studiesThey are still in their infancy.

Some protest with a dwarf against these interventions and criticize physicians, especially for bone extension operations. These operations are usually quite painful for children for a long time. People with this dwarf can claim that since this condition is not a threatening life, these operations are only cosmetic and cause unnecessary pain to the child. On the contrary, some parents feel that physical pain can save children from digestion of emotional pain criticisms.