To confirm the disease, doctors order genetic testing to confirm changes in the FGFR 3 gene.

As the literature indicates, physical and radiological changes worsen with age. A characteristic symptom in children, is dwarfism. There is a worsening facial dysmorphia, characterised by a large head, prominent forehead, lowered nasal root, protruded mandible, malocclusion due to crowded teeth. Children suffering from achondroplasia, usually show a significant delay in psychomotor development - even such basic skills as sitting up or crawling can be problematic. Despite the problem with psychomotor development, children with achondroplasia show normal intellectual development relative to their able-bodied peers. Speech development and hearing impairment may appear in about 25 % of children. With age, neurological abnormalities also appear, which can result in apnoea, due to vascular compression of the respiratory centre in the medulla oblongata, weakness of muscle strength and tone, in extreme cases muscle paralysis. Adults who suffer from achondroplasia are characterised by a small stature - reaching up to 145 cm for men and up to 137 cm for women. As they grow older, sufferers struggle with increasing pain problems (especially in the lumbar and spine), respiratory disorders, motor disturbances and sometimes urinary and faecal continence problems. According to the literature, approximately 20 - 40 % of patients become overweight or obese, which negatively affects the skeleton. The life expectancy of patients, stabilises at the population average.

Inheritance of the disease

The mutation of the gene causing the disease is classified as an autosomal dominant mutation, which means that a mutation of just one copy of the gene is sufficient for the disease to occur. According to research carried out by geneticists, the risk of having a child with achondroplasia increases in healthy couples after the age of 35. The risk of giving birth to another sick child from a union of healthy parents is similar to the risk of giving birth to a sick child after the age of 35. When one parent is ill, the risk of giving birth to a child affected by achondroplasia is 50 %. When both parents are ill, the risk of giving birth to a stillborn child is approximately 25 % and that of an ill child is 50 %.

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Treatment

If your child develops symptoms, it is essential to consult a paediatric neurologist, pulmonologist, orthopaedist and ENT specialist. It is also worth including the child in psychological care. Growth hormone is often used to treat the condition. Also common is the Ilizarov method, which involves surgical lengthening of the thigh and shin limbs. After the operation, rehabilitation and monitoring of the child's development is essential. Patients with achondroplasia, with treatment and compliance with medical appointments and recommendations, can lead a normal life.

Preventive prenatal testing

There are now methods of carrying out genetic testing as early as fetal life, by performing an amniocentesis or trophoblast puncture. The test is carried out in justified cases.