Skeletal dysplasia
- Achondroplasia & hypochondroplasia
Achondroplasia and hypochondroplasia are bone diseases caused by a genetic disorder (a defect in the fibroblast growth factor receptor gene (FGFR1), which affects the long bones of the arms and legs.
In addition to growth failure, achondroplasia and hypochondroplasia are characterised by abnormal body proportions. These abnormal body proportions are more severe in children with achondroplasia. In most cases, they are apparent at birth and persist into adulthood. In addition, children with achondroplasia are often obese with a large head and flattened nose.
Growth hormone therapy normalises height in most children with hypochondroplasia and improves growth in children with achondroplasia.
Skeletal dysplasia is approved as an indication in Japan only.
