Cause: There are two possible causes of achondroplasia. One cause is a genetic mutation of the fibroblast growth factor receptor 3 (FGFR3) gene located on chromosome 4. Achondroplasia can also be inherited from a parent with the condition.
http://bones.emedtv.com/achondroplasia/cause-of-achondroplasia.html
http://bones.emedtv.com/achondroplasia/cause-of-achondroplasia.html
Symptoms:
♀Short body with disproportionately short arms and legs, short fingers, a large head, and specific facial features with a forehead pushing forward, and mid-face hypoplasia(where the center of the head develops slower than the rest of it).
♋Infants that are born with achondroplasia usually have weak muscle tone. Because of this, there may be delays in walking and other motor skills.
☉People with achondroplasia commonly have breathing problems, where breathing stops or slows down for short periods (apnea).
☻Other health issues include obesity and reappearing 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.
http://www.genome.gov/19517823
♀Short body with disproportionately short arms and legs, short fingers, a large head, and specific facial features with a forehead pushing forward, and mid-face hypoplasia(where the center of the head develops slower than the rest of it).
♋Infants that are born with achondroplasia usually have weak muscle tone. Because of this, there may be delays in walking and other motor skills.
☉People with achondroplasia commonly have breathing problems, where breathing stops or slows down for short periods (apnea).
☻Other health issues include obesity and reappearing 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.
http://www.genome.gov/19517823
Inheritance: Achondroplasia is usually not inherited. Over 80 percent of people who have achondroplasia have parents with normal stature and are born with achondroplasia as a result of a new gene alteration (mutation). A person who has achondroplasia, who is planning to have children with a partner, who does not have achondroplasia has a 50 percent chance of having a child with this disease. If both of the parents have achondroplasia, the chance for them to have a child with normal stature is 25 percent. Their chance of having a child with achondroplasia is 50 percent, and their chance of having a child who inherits the gene mutation from both parents (called homozygous achondroplasia - a condition that leads to death) is 25 percent.
http://www.genome.gov/19517823
http://www.genome.gov/19517823
Incidence: Achondroplasia is the most common type of short-limbed dwarfism. The condition occurs in 1 in 15,000 to 40,000 newborns.
http://www.genome.gov/19517823
http://www.genome.gov/19517823
Treatment:
There is no current treatment available. Children born with achondroplasia need to have their height, weight and head circumference monitored using special growth curves standardized for achondroplasia. They also try and take measures to avoid obesity at an early age. To help with breathing, the adenoids and tonsils get surgically removed. Continuous positive airway pressure (CPAP) by nasal mask, or a surgical opening in the airway (tracheostomy) may be needed to correct obstructive sleep apnea. When the lower limbs have problems, such as hyperreflexia, clonus or central hypopnea, then surgery called suboccipital decompression is performed to decrease pressure on the brain.
http://www.genome.gov/19517823
There is no current treatment available. Children born with achondroplasia need to have their height, weight and head circumference monitored using special growth curves standardized for achondroplasia. They also try and take measures to avoid obesity at an early age. To help with breathing, the adenoids and tonsils get surgically removed. Continuous positive airway pressure (CPAP) by nasal mask, or a surgical opening in the airway (tracheostomy) may be needed to correct obstructive sleep apnea. When the lower limbs have problems, such as hyperreflexia, clonus or central hypopnea, then surgery called suboccipital decompression is performed to decrease pressure on the brain.
http://www.genome.gov/19517823