Achondroplasia Research Paper

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chest cages, due to shortened ribs. Scoliosis occurs in many achondroplastic people and breathing symptoms may worsen over time and are an important reason why spinal surgery is recommended in these cases.
• Obstructive upper airway disease- It is due to small bony air passages of the middle face (due to maxillary hypoplasia), hypopharynx is crowded due to tiny jaw or thickened soft tissue in the breathing spaces. This results in inability to breathe through the nose, snoring and apnea (non- breathing) in all ages. Iin infants, poor weight gain and inability to eat well. Serious cases can lead to high blood pressure, heart failure or death.
Ear problems-
The infants suffer from chronic otitis media (middle ear infection). The reason for recurrent …show more content…
This is due to the fact that the brain is wired to think that the body is of average size.
Gynaecologic-
Fertility rates are low in achondroplastic women. They experience menopause early. Pregnant women will need to have delivery by caesarean section and they preferably be given general anaesthesia.
What is the treatment for achondroplasia and its complications?
There is no treatment available for achondroplasia. However, medical and surgical treatment to increase height can be tried. The associated complications can be treated depending on the severity.
Medical treatment-
Height can be increased by giving somatotropin (recombinant human growth hormone). It should be started between 1-6 years of age. The greatest acceleration of growth is seen in first year of treatment. It is given as daily injections to children with dwarfism till they achieve the maximum adult height. There are no long-term studies as yet to determine the final height achieved in achondroplasia.
Surgical …show more content…
Achondroplasia is the commonest cause of dwarfism, but it can be confused with certain other conditions. Dwarfism is defined as an adult height of 4 feet 10 inches or under, as a result of a medical or genetic condition. Dwarfism can be proportionate (when all the body parts are in proportion but shortened) or disproportionate (normal torso but short limbs or short torso with long limbs).
Growth hormone deficiency- The pituitary gland does not produce sufficient amount of growth hormone leading to retardation of growth of all the bones. Body is proportionate but short. It can be treated by giving somatotropin injections, starting before the epiphysis fuse.
Hypothyroidism- Deficiency of thyroid hormone in babies lead to growth retardation. It is associated with delayed milestones, poor muscle tone and below normal intelligence if, not treated early. It is treatable by administering thyroid hormone.
Diastropic Dysplasia- A rare form of dwarfism, diastrophic dysplasia occurs in about one in 100,000 births. People who have it tend to have shortened forearms and calves (this is known as mesomelic shortening). They have deformed hands and feet, cauliflower ears, and cleft
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