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Achondroplasia is a form of short-limbed dwarfism. The word Achondroplasia means ‘without cartilage formation’. Dwarfism is a condition of short figure in an adult. People with Achondroplasia are short in built with normal physique and short limbs. The symptoms are: • Short built which is below average for age and sex. • Short limbs in comparison to body height • Short fingers • Larger head • Occurrence of frequent ear infections, sleep apnea and hydrocephalus.
HOW IS ACHONDROPLASIA DIAGNOSED?
This is usually a genetically inherited condition that can be diagnosed during pregnancy with the help of an ultra sound. An unusually large head can make your doctor ask for a genetic test that will basically look for the FGFR3 gene in a sample of the amniotic liquid. After birth, an X Ray can detect the problem.
HOW IS ACHONDROPLASIA TREATED?
There is no known cure or precise treatment for Achondroplasia. Antibiotics are prescribed for any ear infections and surgery may be recommended for severe cases of spinal stenosis. Some growth hormones are used to increase the growth of the bones however their long term benefits have not been determined as yet.
DID YOU KNOW?
80% of people suffering from Achondroplasia have parents with normal stature and get Achondroplasia because of gene mutation.