Achondroplasia is a Greek term which means “without cartilage formation”. An autosomal dominant genetic disorder, Achondroplasia affects the bones and results in dwarfism. All people with achondroplasia have short stature, where the average adult height in males is 131 cm (52 inches) and in females, it is 124 cm (49 inches). The occurrence of achondroplasia is approximately 1 in 25,000 live births. Though the dwarfs have normal-sized heads, they have short arms and legs, with rolls of skin and soft tissues evident in this region. A child with this disorder starts walking late, with the spine developing a curve in the growing years.
One of the major problems of Achondroplasia is that fat starts accumulating in the body, due to short height, which worsens the situation with time. Other symptoms include decreased muscle tone, prominent forehead, disproportionately large head-to-body size difference, short and broad flat feet, loose joints and extra space between the middle and ring fingers. Though there is no specific treatment for achondroplasia, bone abnormalities and symptoms of achondroplasia should be attended to when they have health problems. Such health problems include spinal stenosis, spinal cord compression, reduced muscle strength, recurring ear infections, breathing disorders, obesity, crowded teeth and so on. Read on further to find know how to treat achondroplasia.
How To Treat Achondroplasia
Most of the cases of achondroplasia occur from unexpected new mutations. This means that adults without achondroplasia even have chances of giving birth to a baby with this disorder. Hence, treating the growth hormones does not significantly increase the height of a person with this disorder. In some specialized cases, limb-lengthening surgeries are conducted to increase the length of the legs and arms. To prevent breathing difficulties and leg pain or loss of function, bone abnormalities, especially in the back, should be detected in the early stages.
In case kyphosis (hunch-back) is visible in an achondroplasic child when he starts walking, it has to be surgically corrected. Surgery can also be conducted to create a bend in the legs. Since people with achondroplasia are likely to develop hearing problems, the infection should be immediately treated on detection. Such people should consult an orthodontist (specialist in aligning teeth) to address their dental problems, as they are likely to develop crowded teeth. Generally, a prenatal ultrasound is conducted to detect the presence of achondroplasia in a child before its birth. At times, a surgery is performed to increase the height of the baby, but this is not an easy procedure and is quite painful.