Achondroplasia is a type of skeletal dysplasia which causes dwarfism. It is one of the rare genetic disorders that affect the development of a baby’s bones, joints and cartilage. For instance, the condition of Achondroplasia occurs in approximately 1 in 15,000–40,000 births worldwide; India‑specific epidemiological data is not well established.
Growth Hormone Therapy is a useful method for improving the significant retardation of growth in affected individuals.
| Type of Injection for Growth Hormone Therapy | Estimated Costs |
| Eutropin 4 Iu | Rs. 900 – Rs.1,800 per vial |
| Zomacton 12 IU | Rs. 2,800 – Rs. 3,300 per vial |
| Headon HGH 4 IU X10 | Rs.10,000 – Rs.12,000 |
| Humatrope Lilly GH 72 IU | Rs. 10,000 - Rs. 15,000 |
| Genotropin 36 Iu (12Mg)/PEN | Rs.999 to Rs.15,200 |
Achondroplasia occurs due to a gene mutation in the FGFR3 (fibroblast growth factor receptor 3). It primarily affects the growth of long bones in the legs and arms. People with this condition are of an extremely short stature. They have an average height of 4 feet, 6 inches (137 centimetres).
Growth hormone injections are most effective for increasing height when initiated early in childhood, before puberty and before the growth plates close. Treatment typically begins in children around 2 to 3 years of age, although some therapies are approved for children aged 1 year and older.
Achondroplasia is typically diagnosed by using a combination of methods such as physical examination, genetic testing, X-ray, CT-scan and MRI. For instance, if either or both of the parents are affected, then a prenatal examination is conducted.
Doctors use ultrasounds to detect achondroplasia before birth. They primarily determine the length of the arms and legs of the growing foetus and whether they are shorter than average. Another sign is babies having large heads. The majority of the diagnoses of achondroplasia are not confirmed until after birth.
Achondroplasia is inherited as an autosomal dominant trait. It means if a child gets one defective gene from either parent, the child can be affected by the disorder. If one parent has achondroplasia, then the child has a 50% chance of getting the disorder passed down genetically.
Achondroplasia is potentially dangerous and includes complications like spinal stenosis, cervicomedullary compression, otitis media, restrictive and obstructive lung disease, amongst others. For instance, in the more severe cases, spinal stenosis can lead to paralysis.
The average lifespan of people with Achondroplasia is 10 years less than that of the general population. However, people who are born with a homozygous genotype for achondroplasia face mortality shortly after birth.
Individuals with Achondroplasia require evaluation and screening regularly for diagnosis of other associated symptoms. Appropriate medications and treatments can then be given to control the symptoms.