Causes and Symptoms of Achondroplasia
by Peter HutchCauses
Most people with achondroplasia have average-size parents, which mean that the cause of achondroplasia is from a new mutation in the FGFR3 gene. Scientists do not know why this mutation occurs.
Achondroplasia is inherited by an autosomal dominant gene that causes abnormal cartilage formation. Autosomal dominant inheritance means that the gene is located on one of the autosomes (chromosome pairs 1 through 22). This means that males and females are equally affected.
Caused by autosomal dominant genetic(it means if fathers have who is in 45 years old)
and affected by incomplite bone growth.
Adolescents and adults with achondroplasia often develop weakness, tingling and pain in the legs or low back pain. This is often due to pressure on the spinal cord from a small spinal canal.
When a parent has a dominant trait, there is a 50 percent chance that any child they have will also inherit the trait. So, in some cases, the child inherits the achondroplasia from a parent with achondroplasia. The majority of achondroplasia cases (80 percent), however, are the result of a new mutation in the family - the parents are of average height and do not have the abnormal gene.
Symptoms
The bowed legs and in-turned toes are developed. The hands, feet, fingers and toes are small and wide. The individuals suffering from Achondroplasia may develop similar facial structure due to difference in the development of the bone structure than the normal population.
Small vertebral canals (back bones) - may lead to spinal cord compression in adolescence. Occasionally children with achondroplasia may die suddenly in infancy or early childhood in their sleep due to compression of the upper end of the spinal cord, which interferes with breathing.
Curved lower spine - a condition also called lordosis (or "sway-back") which may lead to kyphosis, or the development of a small hump near the shoulders that usually goes away after the child begins walking.
All people with achondroplasia have a short stature. The average height of an adult male with achondroplasia is 131 centimeters (52 inches, or 4 feet 4 inches), and the average height of an adult female with achondroplasia is 124 centimeters (49 inches, or 4 feet 1 inch).
Commonly have breathing problems in which breathing stops or slows down for short periods (apnea). Other health issues include obesity and recurrent ear infections. Adults with achondroplasia may develop a pronounced and permanent sway of the lower back (lordosis) and bowed legs. The problems with the lower back can cause back pain leading to difficulty with walking.
Fingers are typically short. The ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance.
Symptoms of Achondroplasia may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of symptoms and whether they are indeed symptoms of Achondroplasia.
Sometimes, the vertebrae of achondroplastic children do not grow enough to allow sufficient space for nerves exiting and entering the spinal cord to pass in and out of the bony spinal column. If only a single nerve root is compressed, a child may experience pain, numbness or weakness in a specific arm or leg. They may seem to prefer using one hand over another very early as babies, or complain of pain in their back or affected arm.