Achondroplasia is a type of dwarfism caused by a mutated gene or direct mutation. It is an autosomal dominant condition, and babies who inherit two mutated genes die at birth or soon after. It is usually diagnosed through genetic testing in early pregnancy or physical examination and X-rays after birth. People with achondroplasia are prone to ear infections and have a higher risk of developing hydrocephalus. Some doctors are experimenting with surgeries and medications to help people with achondroplasia achieve greater height, but some with dwarfism protest these surgeries.
Achondroplasia is a type of dwarfism caused by inheritance of a mutated gene or direct mutation of a gene. Because cartilage doesn’t form properly, bones can’t grow as they normally would. This results in the bones being unable to reach normal adult size. Most with Achondroplasia reach a height of about four feet (1.21 m) in adulthood.
Achondroplasia is called an autosomal dominant condition because people need to inherit only one gene mutation to cause the condition. So a parent with this disorder has a 50% chance of passing the gene on to each child. Inheriting two genes for this is fatal.
If both parents have the disorder, they have a 25% chance of passing two of the mutated genes to each child. Two inherited genes for this condition have usually not survived. Unfortunately, babies who inherit two mutated genes die at birth or soon after.
Even though achondroplasia is considered autosomal dominant, there are some people who are born with the condition to parents with no outward signs of dwarfism. They clearly don’t have the gene, because carrying the gene would mean they would have the condition. Therefore, in rare cases, the gene can mutate on its own and create the condition. Studies have shown that this is linked to mutations in the father’s sperm cells. Such mutations become more common as men age.
However the condition is not exactly common. It is present in all races in approximately 1 in 20,000 to 40,000 births. That is 005% to 0025% of the general population. It remains a difficult but relatively rare condition.
Generally, Achondroplasia can be diagnosed in utero through genetic testing in early pregnancy, once the responsible gene has been identified. Also, ultrasound in the second half of a pregnancy shows signs of the disorder. In particular, the length of the femur does not match its width as pregnancy progresses.
Diagnosis after birth is made through physical examination and X-rays, which show developmental problems with many of the bones. The achondroplastic adult can be recognized by his short stature, bowing of the legs, relatively large head but small nose, curvature of the spine, and short fingers and toes. While the condition often brings unwanted comments from insensitive people, it is usually not life threatening.
There are some complications common to those with achondroplasia. They can have slightly delayed development as children and are quite prone to ear infections. Some babies have a higher risk of developing hydrocephalus, or water on the brain. Apart from these complications, which are present in many without the disorder, it usually results in the same lifespan as those without the gene.
Recently doctors have begun attempting surgery and/or medications to help people with achondroplasia achieve greater height. These surgeries include bone lengthening surgeries, which break down the bone and then stimulate regrowth in order to attain a taller stature. Additionally, some doctors are experimenting with the use of human growth hormone on those with the condition to attempt greater growth potential. These studies are still in their infancy.
Some with dwarfism protest these surgeries and criticize doctors, especially, for bone-lengthening surgeries. These surgeries typically are quite painful for children for long periods of time. People with this form of dwarfism might argue that since the condition is not life threatening, these surgeries are only cosmetic and inflict unnecessary pain on a child. Conversely, some parents feel that the physical pain of surgeries can save children from experiencing the emotional pain of peer group criticism.
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