Achondroplasia

Achondroplasia

1) ** Who discovered Achondroplasia: ** Dr. John Wasmuth and his team of scientists discovered the disease in 1994, it's caused by the fibroblast growth factor receptor-3 gene which is part of chromosome 4. 2) ** What are the symptoms/characteristics associated with this disorder? At what age do the symptoms begin? Are the symptoms treatable? If so, how? Is the disorder fatal?: ** Achondroplasia is a bone growth disorder that causes dwarfism. Dwarfism is known as a condition of short stature as an adult. People with Achondroplasia are short very short in size with a normal sized torso and short limbs. It is said to be the most common type of dwarfism. The beginning of Achondroplasia occurs in the fetal development, where most of the cartilages does not convert to bone. In more than 80% of cases this disease in NOT inherited, and is occurs mainly because of mutations in the FGFR3 gene. Most people with Achondroplasia have a normal lifespan, but there is a slightly increased risk of death during the first year of life 3) ** What is the inheritance pattern of the disorder: dominant, recessive, sex-linked, autosomal, other?: ** Achondroplasia is inherited in an autosomal dominant pattern, this means that one copy of the altered gene in each cell is enough to cause the disorder. 4) ** Are there any environmental factors that can affect the symptoms?: ** No environmental factors affect the symptoms of this disease, only family history. 5) ** How common is the disorder? Does it occur more frequently in certain parts of the world or in certain ethnic groups or in one sex?: ** Achondroplasia occurs in 1 in 25,000 live births, and occurs equally in male and female births. Achondroplasia occurs in 1 case in 6400 births in Denmark and about 1 case in 10,000 births in Latin America. No area in the world is known to be more affected. 6) ** What tests are done to confirm a diagnosis of this disorder?: ** X-rays are a main way to diagnose this disease, however ultrasounds and CT scans can also be used to diagnosis this disorder. 7) ** Which chromosome(s) is responsible for this disorder?: ** Mutations in the FGFR3 gene cause more than 99% of cases of achondroplasia, and is the leading cause to this disease.





[] [|https://rarediseases.info.nih.gov/diseases/8173/achondroplasia/cases/54802#10023] [] [] []