Browsing: Achondroplasia

Comprehensive Information, Resources, and Support on Achondroplasia

Achondroplasia is often a result of new gene alterations or mutations. These changes can be identified with the help of molecular genetic tests. Genetic testing helps in the identification of manipulation in chromosomes, genes, or proteins which can help a doctor to rule out or detect a suspected genetic condition.

Achondroplasia life expectancy is normal and slow growth of children does not affect the prognosis. However, if a child is suffering from homozygous achondroplasia he or she is expected to survive only for the first year of his or her life in most cases. Growth is studied in patients on parameters such as height, BMI, weight, etc.