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AchondroplasiaParenting is not an easy obligation and responsibility of both parents. It entails raising a child properly making sure that their child will grow healthy. The duties of parents are not just limited to provide food, shelter, and education but also being mindful of the overall wellbeing of the child. However, despite the meticulous care that parents do, there are still issues that parents may encounter which they can’t help but worry like physical deformities, and abnormal growth and development of the child. Do these also worry you as parents? Is your child grow in a normal condition or you might have missed something that made you wonder why your child’s growth seems off track? Here’s what you need to know about Achondroplasia.

Achondroplasia is a rare bone growth disorder that is caused by a gene mutation in the FGFR3 gene. The FGFR3 gene makes a protein called fibroblast growth factor receptor 3 that is involved in converting cartilage to bone. People with achondroplasia are short in stature with a normal-sized torso and short limbs.

Most people who have achondroplasia have average-sized parents. This happens when the FGFR3 gene mutation occurs in one parent's egg or sperm cell before conception. Other people with achondroplasia inherit the condition from a parent who has achondroplasia.

These are the following clinical symptoms of Achondroplasia:

1. Short stature with disproportionately short arms and legs

2. Short fingers

3. A large head (macrocephaly); and

4. Specific facial features with a prominent forehead (frontal bossing) and mid-face hypoplasia.

Infants born with achondroplasia typically have weak muscle tone that delays their walking and other motor skills. Compression of the spinal cord and/or upper airway obstruction increases the risk of death in infancy. People with achondroplasia commonly have breathing problems in which breathing stops or slows down for short periods. Other health issues include a high prevalence of obesity, increased risk of cardiovascular diseases, and recurrent ear infections.

Unfortunately, there is no specific treatment that is available for achondroplasia. Children born with achondroplasia need to have their height, weight, and head circumference monitored regularly using special growth curves standardized for achondroplasia. Measures to avoid obesity at an early age are highly recommended.

Children having this kind of condition needs extra care for monitoring especially on their growth and development. Full support to manage their social adjustment is also necessary among others. Choosing childcare is the most important decision when you become a parent. So be prepared especially on the thought that even if you have done the best things you can do to better their lives yet things beyond your control happen!

NO I Zhalimar A. Jakaria-Patulada

 

References:

About Achondroplasia

https://www.genome.gov/Genetic-Disorders/Achondroplasia

Achondroplasia

https://www.healthline.com/health/achondroplasia#symptoms