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  • Are there any other names for Achondroplasia?
  • Yes there is here are some of the other names for Achondroplasia. Here are some of the other names for it, dwarfism,apena,lordosis, and hydrocephalus.
  • However, if you have achondroplasia, a lot of the cartilage doesn't convert to bone. This is caused by mutations in the FGFR3 gene. The FGFR3 gene instructs your body to make a protein necessary for bone growth and maintenance. Mutations in the FGFR3 gene cause the protein to be overactive
  • What causes Achondroplasia?
  • Achondroplasia is a single gene disorder caused by mutations in the FGFR3 gene on chromosome 4. Two different mutations in the FGFR3 gene cause more than 99 per cent of cases of achondroplasia. It is a dominant genetic disease so only one copy of the FGFR3 gene needs to be mutated for symptoms to develop
  • What gene or chromosome is affected by Achondroplasia?
  • Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development.
  • What are the symptoms of Achondroplaisa? Who can be affected by Achondroplasia?
  • : physical deformity, short stature, bow legs, excessive inward curvature of the lower back, short fingers, enlarged head, hunched back, middle ear infection, misaligned teeth, or snoring.
  • Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 80 percent of people with achondroplasia have average-size parents; these cases result from new mutations in the FGFR3 gene.
  • How is Achondroplasia inherited?
  • What treatment exist for Achondroplasia?
  • The availability of somatotropin (recombinant human growth hormone) has revolutionized the treatment of short stature. Growth hormone is currently being used to augment the height of patients with achondroplasia. The greatest acceleration in growth velocity is seen during the first year of treatment and in those with the lowest growth velocities before treatment.
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