Hypochondroplasia is a genetic disorder characterized by short stature. It is caused by a mutation in the FGFR3 gene. The condition is hereditary and follows an autosomal dominant pattern of inheritance. This means that if one parent has the condition, there is a 50% chance of passing it on to their children. Genetic counseling is recommended for individuals with a family history of hypochondroplasia to understand the risks and implications.
Hypochondroplasia is a genetic disorder that affects bone growth and development. It is characterized by short stature, short limbs, and a relatively large head. The condition is caused by mutations in the FGFR3 gene, which provides instructions for making a protein involved in the development and maintenance of bone and brain tissue.
Is Hypochondroplasia hereditary?
Yes, Hypochondroplasia is inherited in an autosomal dominant pattern, which means that a person with the condition has a 50% chance of passing it on to each of their children. Autosomal dominant disorders occur when a single copy of the mutated gene is sufficient to cause the disorder.
When an individual with Hypochondroplasia has children, each child has a 50% chance of inheriting the condition. If the child inherits the mutated gene, they will also have Hypochondroplasia. If the child does not inherit the mutated gene, they will not have the condition and will not be at risk of passing it on to their own children.
It is important to note that genetic testing can be done to confirm the presence of the FGFR3 gene mutation associated with Hypochondroplasia. This can be helpful in determining the risk of passing on the condition to future generations.