No specific treatment is available for achondroplasia. Achondroplasia
The height of a human being can usually be linked to genetics. Though it is rare, every newborn has a small chance of developing dwarfism. The most ordinary form of dwarfism is called achondroplasia, literally meaning, “without cartilage formation.” The name comes from the complications in ossification caused by the genetic defect. The gene responsible for the defect was discovered in 1994 by Dr. John Wasmuth, at the University of California at Irvine. Located on chromosome 4, achondroplasia is the most common type of dwarfism, caused by a mutation of the FGFR3 gene. The defect is usually random, where the parents do not have achondroplasia. It affects around 1 in 25000 people.
An ultrasound can help detect achondroplasia. An obstetrician may find hydrocephalus, an abnormally large head, or other signs of achondroplasia by examining the ultrasound. To verify the diagnosis, the obstetrician may also have a sample of amniotic fluid tested. If the mutated FGFR3 gene is found, this verifies that the child has the defect. After birth, a diagnosis can be made with an …show more content…
However, the child of someone with the disorder has a high chance of also inheriting the mutation. On the rare occasion that the parents of an affected person have achondroplasia, it is dominant and autosomal. If someone with achondroplasia plans to have a child with a healthy person, there is a 50 percent chance that the child will inherit the defect. If both parents have achondroplasia, the child has a 25 percent chance of being unaffected by their parents’ mutation. With both parents having the defect, this makes it possible for a child to receive two copies of the mutation. This form of achondroplasia is deadly, and shortens the child’s lifespan to less than a year in most cases. There is a 50 percent chance of the child inheriting normal
The height of a human being can usually be linked to genetics. Though it is rare, every newborn has a small chance of developing dwarfism. The most ordinary form of dwarfism is called achondroplasia, literally meaning, “without cartilage formation.” The name comes from the complications in ossification caused by the genetic defect. The gene responsible for the defect was discovered in 1994 by Dr. John Wasmuth, at the University of California at Irvine. Located on chromosome 4, achondroplasia is the most common type of dwarfism, caused by a mutation of the FGFR3 gene. The defect is usually random, where the parents do not have achondroplasia. It affects around 1 in 25000 people.
An ultrasound can help detect achondroplasia. An obstetrician may find hydrocephalus, an abnormally large head, or other signs of achondroplasia by examining the ultrasound. To verify the diagnosis, the obstetrician may also have a sample of amniotic fluid tested. If the mutated FGFR3 gene is found, this verifies that the child has the defect. After birth, a diagnosis can be made with an …show more content…
However, the child of someone with the disorder has a high chance of also inheriting the mutation. On the rare occasion that the parents of an affected person have achondroplasia, it is dominant and autosomal. If someone with achondroplasia plans to have a child with a healthy person, there is a 50 percent chance that the child will inherit the defect. If both parents have achondroplasia, the child has a 25 percent chance of being unaffected by their parents’ mutation. With both parents having the defect, this makes it possible for a child to receive two copies of the mutation. This form of achondroplasia is deadly, and shortens the child’s lifespan to less than a year in most cases. There is a 50 percent chance of the child inheriting normal