What is Achondroplasia
In this disease, the bones of the patient remains too short or grow too slowly. Achondroplasia mostly is caused by a dominant factor of allele and mostly affects the femur and humorous. This factor means that it is transferred from parents to kids or you can say it is transferred through genes.
Achondroplasia has more than 75% chances in a new born child if the gene is in father as well as mother too and that can last for maximum for three months in this state for a child to survive. Mean, the child would be dead. If any one of them have gene then the chances of it are 50%.
Achondroplasia can also occur if parents does not have gene of this disease. This happens with a light change in DNA receptor factor 3. This so affects the making of cartilage. And it is too unpleasant that no such treatments are found for this disease and as the reasons and DNA factor is known now. In the future we may seem positive treatment for this awesome disease. The persons or kids with disease remain short of height because their bones are very short.
What are Symptoms of achondroplastic?
The typical appearance of achondroplastic dwarfism is small and visible since birth and other few symptoms are:
- The appearance of hand is not normal
- The legs are bowed
- The head to body size difference is large if we see them in natural proportion.
- The forehead of the person is usually large and prominent.
- The arms of patient are short.
- The legs of the patient are short.
- The height of the person is short as compared to the normal fellow person of same sex and age.
- Spinal stenosis
- Spine curvatures called kyphosis and lordosis
References and Footnotes;
- Horton WA, Hecht JT. Disorders involving transmembrane receptors. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 694.
- Achondroplasia. ncbi.nlm.nih.gov. [Online] November 2nd, 2009. [Cited: July 17th, 2011.] http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002544/.
- Neurotransmitter. Wikipedia, the free encyclopedia. [Online] July 6th, 2011. [Cited: July 17th, 2011.] http://en.wikipedia.org/wiki/Achondroplasia