Achondroplasia – Most common cause of dwarfism

Achondroplasia – Most common cause of dwarfism

Achondroplasia – One of most common cause of dwarfism.
The disease is caused by an abnormal mutation in the FGFR3 gene, the receptor for fibroblast growth factor. Achondroplasia is one of the bone dysplasias, i.e. impaired bone growth. People with achondroplasia are usually short. The adult reaches 120-130 cm, has a characteristic long body and very short limbs. The skull, on the other hand, is extended and has a broad, convex forehead.

Diagnosis of achondroplasia in a child is possible already during pregnancy using an ultrasound of the amniotic fluid. The cause of the disease is a gene mutation that prevents the proper development of the skeletal system. If a parent is sick, there is a 50% chance the child will have the disease. There is no cure for the disease, but spinal canal surgery is performed to prevent compression of the spinal cord. One option is also limb extension surgery.

The main risk factor is the age of the parents.

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