Achondroplasia is a disorder that affects the bone growth causing dwarfism and short stature. It is inherited by birth and the person affected with this disorder would have short limbs with short torso. But this will not affect their intelligence. In severe cases it can affect the spine and brain. Genetic mutation is the main cause for achondroplasia. No treatment is available for achondroplasia since it is a genetic problem. The word “achondroplasia” means “not having enough cartilages” since the people with this disorder cannot have lengthy bones due to shortage of cartilage. About one person in every 25,000 can have this birth defect.
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Achondroplasia Causes :
Cartilages are the fundamental substance that forms up skeleton. People with achondroplasia cartilages do not get converted into bone leading to dwarfism. This disorder is caused by faulty gene mutation of FGFR3 genes which is responsible for instructing protein production. Due to this normal bone development does not takes place.
Achondroplasia Symptoms :
The child born with this disorder will have long trunk with short arms and legs. They will have large sized head with prominent forehead, underdeveloped cheekbones, short fingers and toes. They cannot have normal movement of elbow joints and hip joint.
The child will have reduced muscle tone causing delay in walking. He/she might have several health problems like spinal stenosis and hydrocephalus. Such children can grow up to 4 feet only. Children/adults with this disorder can have normal intelligence and normal life span.
Diagnosis :
An achondroplasia baby can be identified with physical features. In case of suspicion the doctor can order for imaging tests like X-ray and ultrasound.
Achondroplasia Treatment :
There is no treatment for achondroplasia which is a genetic disorder. The parents have to monitor the growth of such child carefully and should make regular visits to orthopedic surgeon and neurologist. For children with spinal cord compression, surgery can be done for repairing it. It can cause hump on their back which can be corrected in early stages.
For some children water may get collected in the brain due to disproportion which can be repaired using a shunt surgery. Obesity is a common problem for adults with achondroplasia disorder. Hence they should monitor the weight by dieting to prevent other medical issues due to overweight.
Achondroplasia: Not Fully Genetic
It is interesting to note that only 20% of the children inherit this disorder. For others, achondroplasia is developed due to gene mutation. A man or woman with achondroplasia should consider several factors before preparing to have a child. There is almost 50% risk of passing the defective gene to the infant even if one of the parents has this disorder.
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