Achondroplasia

What is achondroplasia?

Achondroplasia is an abnormal bone growth condition that makes kids end up becoming dwarfs but in this case the most common type of dwarfs, disproportionate dwarfs. A disproportionate dwarf has short limbs but with a normal sized torso that non-dwarfs have.

In every 25,000 live birth (males and females), it is likely that one will have an achondroplasia. This was a documented report from Columbia University Medical Center (CUMC).

 

Causes of achondroplasia

Bones are from cartilages. Unborn babies have a large chunk of cartilages compared to bones. When someone has achondroplasia, a large percentage of their cartilage fails to be transformed into bones. This is a result of a bad gene called FGFR3 gene. A bad gene is a mutated gene; a gene whose structure has been faulted. Since this gene has been faulted, it will no longer be able to effectively carry out its destined function. Its function is to produce proteins needed for bone growth, development, and maintenance. Instead of it to function at its pace, it becomes overly active in such a way that is detrimental to the normal growth and development of the skeletal system.

 

 Can it be inherited?

Not in a large percentage as reported by the National Human Genome Research Institute. Only about 20% of cases are inherited from just one or both parent that has (have) the bad gene. It is a 50-50 probability if it is just one of the parents that have the bad gene and 25% chances of having it if both parents have the bad gene, but in this case, the fatal variant called homozygous achondroplasia. Most of the fetuses affected, if they escape stillbirth, will only survive a few months after birth.

The rest of the cases are not inherited. It is due to a kind of mutation referred to as spontaneous. The parents don’t have to have the bad gene. In fact, none of the parents have it.

If you have an achondroplasia history in your family, you should not shy away from going for a genetic test before you even think of getting pregnant. The risks will be well explained in plain terms to you. It will now be left to you to decide whether you want to risk it or completely avoid getting pregnant.

 

Achondroplasia

Photo Credit: UBC Wiki: University of British Columbia

 

Diagnosis of achondroplasia

Diagnosis can be before or after birth.

Diagnosis before birth;

These can be achieved with an ultrasound or a genetic testing. When you are pregnant and you go for an ultrasound, an unusually large head will be revealed. This is called hydrocephalus. This can be confirmed by a genetic test on the fluid surrounding the baby. This is to assess the presence of the bad gene – FGFR3.

 

Diagnosis after birth;

It will include physical features, bone length and blood tests for the bad gene’s presence.

The baby’s physical features will be examined by the doctor. An X-ray will be conducted on him to check his bone length. The blood test for the presence of the defective gene in the baby is confirmatory in nature.

 

Treatment for achondroplasia

It cannot be cured. It does not have any specific treatment, either.

Treatments will be as complications arise. For example, when there is an ear infection, antibiotics will be administered. When spinal stenosis becomes severe, a surgery to relieve it will be undertaken on the child.

It has been found out that some doctors have been administering growth hormones on such kids to enhance their bones’ growth rate. Their success long-term success has not yet been proven.

 

Long-term outlook

According to the National Human Genome Research Institute, virtually everyone with achondroplasia has a normal lifespan and could live a full life. Notwithstanding, there is a slight rise in the risk of a premature death especially before their second birthday.

Adults might be predisposed to having a heart attack.

Achondroplasia patients are usually advised by doctors to do away with sports or activities that could pose a threat to their spinal cord and cause damage to it.

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