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Achondroplasia: Causes, Symptoms, Diagnosis And Treatment

Achondroplasia is a rare genetic bone disorder characterized by short-limbed dwarfism [1] . In Achondroplasia, there is an abnormal cartilage formation that affects the skeletal growth of a person and makes them a dwarf with short limbs and large head.

The average height of achondroplasia adult males is 4 feet, 4 inches while females have 4 feet, 1 inch [2] . Their intelligence level is normal and the dwarfism trait in parents often used to pass to their children. However, it can also occur to people who do not have a history of dwarfism in their family due to some gene mutation. Achondroplasia is among the oldest known birth defects and its ratio is 1 in 15000 - 35000 births.

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What Causes Achondroplasia

Achondroplasia is referred to as an autosomal dominant disease. It can affect both males and females. A gene named FGFR3 [3] is responsible for the development of bone and brain tissues in our body. Due to two specific kind of mutations in that gene, bone development process gets disturbed leading a person to achondroplasia.

If at least one defective FGFR3 gene passes to the child from either of the parents, the child can develop the trait of dwarfism. However, a report says that 80% of people have developed the condition due to a new gene mutation in the family who don't have a history of dwarfism.

Symptoms Of Achondroplasia

Every child with achondroplasia may experience different symptoms. However, common symptoms of the condition are as follows:

1. Short arms, legs and fingers

2. Short stature than average people [4]

3. Large heads in comparison to their body

4. Bowed lower legs [2]

5. Lordosis, a condition characterized by the curved lower spine

6. Short and broad flat feet

7. Trident hand, a large space between the middle and ring fingers

8. Apnea, slow breathing or sudden stop of breathing

9. Obesity

10. An ear infection that occurs often [5]

11. Delay in motor functions

12. Hydrocephalus, water in the brain [6]

Diagnosis Of Achondroplasia

Achondroplasia can be diagnosed by two methods which are as follows:

  • Diagnosis during pregnancy: During an ultrasound, any abnormalities (large head or a short limb) in the foetus can be identified easily by a medical expert. If they suspect the condition, genetic tests are ordered by taking an amniotic fluid sample from the mother's womb [7] .
  • Diagnosis after pregnancy: If a child is born with achondroplasia, the condition can easily be identified visually by a medical expert. X-ray test is ordered to find out the length of the child's bones[8] .

Complications Short Women Face During Pregnancy

Treatment Of Achondroplasia

People with achondroplasia can live a normal life. However, children with the condition need a lot of medical attention and care for their physical and mental growth. The treatments are as follows:

  • Surgery of the spinal stenosis, in case it is too narrow [9]
  • Surgery in case of spinal cord compression
  • Surgery to correct the bowed legs
  • Surgery to prevent hydrocephalus, water in the brain [6]
  • Antibiotics for ear infection [5]
  • Straightening the teeth in case of dental crowding[10]
  • Growth hormone, but this is not yet proved to be effective
View Article References
  1. [1] Pauli, R. M., & Legare, J. M. (2018). Achondroplasia. In GeneReviews®[Internet]. University of Washington, Seattle.
  2. [2] 2. Merker, A., Neumeyer, L., Hertel, N. T., Grigelioniene, G., Mäkitie, O., Mohnike, K., & Hagenäs, L. (2018). Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort. American Journal of Medical Genetics Part A, 176(8), 1723-1734.
  3. [3] Ornitz, D. M., & Legeai‐Mallet, L. (2017). Achondroplasia: development, pathogenesis, and therapy. Developmental Dynamics, 246(4), 291-309.
  4. [4] Pauli, R. M. (2019). Achondroplasia: a comprehensive clinical review. Orphanet journal of rare diseases, 14(1), 1.
  5. [5] Jung, J., Yang, C., Lee, S., & Choi, J. (2013). Bilateral Ossiculoplasty in 1 Case of Achondroplasia. Korean journal of audiology, 17(3), 142.
  6. [6] Pierre-Kahn, A., Hirsch, J. F., Renier, D., Metzger, J., & Maroteaux, P. (1980). Hydrocephalus and achondroplasia. Pediatric Neurosurgery, 7(4), 205-219.
  7. [7] De Pellegrin, M., & Moharamzadeh, D. (2008). Ultrasound hip evaluation in achondroplasia. Journal of Pediatric Orthopaedics, 28(4), 427-431.
  8. [8] Huggins, M. J., Smith, J. R., Chun, K., Ray, P. N., Shah, J. K., & Whelan, D. T. (1999). Achondroplasia–hypochondroplasia complex in a newborn infant. American journal of medical genetics, 84(5), 396-400.
  9. [9] Sciubba, D. M., Noggle, J. C., Marupudi, N. I., Bagley, C. A., Bookland, M. J., Carson, B. S., ... & Jallo, G. I. (2007). Spinal stenosis surgery in pediatric patients with achondroplasia. Journal of Neurosurgery: Pediatrics, 106(5), 372-378.
  10. [10] Al-Saleem, A., & Al-Jobair, A. (2010). Achondroplasia: Craniofacial manifestations and considerations in dental management. The Saudi dental journal, 22(4), 195-199.

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