Achondroplasia (dwarfism): symptoms, diagnostics, treatment

The deformity of achondroplasia (dwarfism) is a consequence of gene mutations. It is based on a genetic factor, and no one can tell when it will show itself. In case of 80% of patients, parents have normal height. About 200 diseases are known in the world that cause dwarfism, but the most common two are pituitary dwarfism and achondroplasia. The first is treated with growth hormone, and the second one – by performing comprehensive surgical manipulations. This method makes it possible to increase height by 25-30 cm, so the operation has gained popularity among patients.

The diagnosis of achondroplasia (dwarfism) is successfully treated in Ladisten, the clinic of modern orthopedic technologies.

What is achondroplasia

This is a congenital disease caused by a mutation in the FGFR3 gene. The bones begin to grow incorrectly, they don’t develop in length, the human skeleton becomes disproportionate, and the facial features are distorted. The deformity of achondroplasia (dwarfism) has the most important sign – a small height of about 125-130 cm and short limbs.

Causes of the disease

There is one reason – a genetic factor. But the deformity of achondroplasia (dwarfism) includes some risk factors:

• age of parents. This is especially relevant to the father. If the father is well over 40, the risk of mutation increases;
• fetal oxygen starvation in the last months of pregnancy or during birth;
• the presence of a mutated gene in parents.

It is important to understand that the insidiousness of achondroplasia lies in psychological problems. As for the rest, the mental and intellectual development of small people is completely normal, and the diagnosis of achondroplasia (dwarfism) has been successfully treated for many years by performing operations.