Description
Achondroplasia is a disease of the Bones.
The genetic disorder that disrupts the normal growth of the Bones is Achondroplasia.
It causes Dwarfism that occurs due to Inheritance or Genetic Mutations.
The Cartilage is a fibrous connective tissue. It is responsible for the normal growth of the Bones. The calcium is released in the cartilage which converts into a Bone.
In Achondroplasia, the cartilage fails to convert into a Bone.
People having Achondroplasia have short Legs, short Arms and a large Head.
The main cause for Achondroplasia is mutated FGFR3 Gene (Fibroblast Growth Factor Receptor 3). FGFR3 gives instructions to provide a protein, which develops the Bones. But the mutated FGFR3 gene causes over production of the protein. It affects the production of the Cartilage. This interrupts the normal development of Bones and causes Achondroplasia.
Causes of Achondroplasia
Inheritance
Hydrocephalus
Gene Mutations