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Achondroplasia

Overview

Achondrplaisa is a disease characterized by short stature (short stature is when the height is low as compared to the normal height of a person). This short stature is due to abnormal growth of bones, caused by defective formation of cartilage. Jyoti Amge, a 15-year-old girl from India, broke the world record for the shortest person on earth. Diagnosed with achondroplasia, she is 23 inches (58 cm) tall, and weighs 11 lbs (5 kg). Several conditions in heriditary disorders coincide with achondrplasia like osteogenesis imperfecta, multiple epiphyseal dysplasia tarda, achondrogenesis, osteopetrosis, and thanatophoric dysplasia. The incidence of this condition is about 1 in very 25,000 persons.


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Causes

The basic cause behind this disease is mutation in the fibroblast growth factor receptor gene called FGFR 3, which leads to abnormaility in the formation of cartilage and hence this results in shotrened bones; this is due to the cartilage in the bone not allowing its normal growth and hence they get shortened - resulting in the short stature of the affected individual. This disease is autosomal dominant, i.e, only one copy of a mutant gene is necessary for the disease to occur. The presence of mutant allele on both chromosomes will be fatal and the baby willl die just after birth. Studies show that there is some defect in the gene during spermatogenesis which leads to achondrplasia in child. During oogenesis there is some mechanism which hinders the the mutation in them. 99% of the times, the disease occurs due to the mutation from G->A in nucleotide 1138 of gene FGRF3, while only 1% occurs due to G->C in nucleotide 138 of gene FGRF3.


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Signs & Symptoms

The following are the most common symptoms of achondroplasia. However, each child may experience symptoms differently. These include:

  • Shortened arms and legs, with the upper arms and thighs more shortened than the forearms and lower legs
  • Large head size with prominent forehead and a flattened nasal bridge
  • Crowded or misaligned teeth
  • Curved lower spine - a condition also called lordosis (or "sway-back") which may lead to kyphosis, or the development of a small hump near the shoulders that usually goes away after the child begins walking.
  • Small vertebral canals (back bones) - may lead to spinal cord compression in adolescence.
  • Occasionally children with achondroplasia may die suddenly in infancy or early childhood in their sleep due to compression of the upper end of the spinal cord, which interferes with breathing.
  • Bowed lower legs
  • Fat feet that are short and broad
  • Extra space between the middle and ring fingers (Also called a trident hand.)
  • Poor muscle tone and loose joints
  • Frequent middle ear infections which may lead to hearing loss
  • Normal intelligence
  • Delayed developmental milestones such as walking (which may occur between 18 to 24 months instead of around one year of age)
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Prevention

Defects in genes cannot be prevented.


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Treatments
Growth Hormones or Surgeries Modern Medicine

There is no treatment for the disease. We can give growth hormones to such patients to help in their growth but this is not very beneficial to them.
Limb lengthening surgeries are used to increase the length of the bone.

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