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Top Asked Questions
What is achondroplasia and what are the symptoms?From Wikipedia, the free encyclopedia Achondroplasia is a genetic disorder whose primary feature is dwarfism. In those with the condition, the arms and legs are short, while the torso is typically of normal length. Those affected have an average adult height of 131 centimetres (4 ft 4 in) for males and 123 centimetres (4 ft) for females.
Is achondroplasia autosomal dominant or dominant?Achondroplasia is due to a mutation in the fibroblast growth factor receptor 3 ( FGFR3) gene. In about 80% of cases, this occurs as a new mutation during early development. In the other cases, it is inherited from one's parents in an autosomal dominant manner. Those with two affected genes do not typically survive.
Can a person with achondroplasia inherit dwarfism?A person with achondroplasia thus has a 50% chance of passing dwarfism to each of their offspring. People with achondroplasia can be born to parents that do not have the condition due to spontaneous mutation. Achondroplasia can be inherited through autosomal dominance.
Is there a cure for achondroplasia?There is no known cure for achondroplasia even though the cause of the mutation in the growth factor receptor has been found. Although used by those without achondroplasia to aid in growth, human growth hormone does not help people with achondroplasia (which involve a different hormonal pathway).