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What is Achondroplasia?
Achondroplasia is a bone growth disorder . Achondroplasia is the most common type of disproportional short stature.1Achondroplasia is a condition find in one in every 15,000 to one in every 40,000 children . Achondroplasia is a circumstance that usually pass off due to cistron alteration or mutation in the Fibroblast Growth Factor Receptor 3 gene . The FGFR3 factor feed birth to a protein love as Fibroblast Growth Factor Receptor 3 that is responsible for converting cartilage to osseous tissue . FGFR3 is the one and only gene associated with achondroplasia . Achondroplasia affects children get only a exclusive copy of the normal FGFR3 factor and a single copy of the FGFR3 factor mutation .
Achondroplasia literally means without cartilage formation , but in actuality achondroplasia is a condition , which does not affect the cartilage formation in any way . The actual problem in achondroplasia is the conversion of the cartilage to the ivory , specifically the long bones of the body , which does not take property .
Most of the cause of achondroplasia consist of average - size of it parents where the FGFR3 gene mutation is cause in one of the parent ’s sperm cell or orchis before excogitation . In some cases the small fry inherit the disorderliness from a parent who already has achondroplasia .
Achondroplasia is an inherited disorder that go to abnormally shortsighted stature associated with disproportionately shortsighted limb . Achondroplasia is a consideration in which the intermediate meridian of an adult is recorded as 52 in or 4 foot 4 inches in males and 49 inches or 4 foot 1 inch in females .
Children suffering with achondroplasia have to be supervise cautiously and given good support for adjusting socially .
Types of Achondroplasia
give Below Are Few Common Types of Achondroplasia :
Epidemiology of Achondroplasia
Achondroplasia is one of the oldest recognize birth defects . roughly 1 in 25,000 births worldwide get affected with achondroplasia . Achondroplasia has been view equally in all the races and in both male and females .
Compression of the spinal corduroy and/or upper airway impedimenta increase the peril of demise in infancy .
Causes of Achondroplasia
Signs and Symptoms of Achondroplasia
Treatment for Achondroplasia
Tests to Diagnose Achondroplasia
A arrant subjective and nonsubjective examination is perform to diagnose achondroplasia .
Tests for Diagnosing Achondroplasia May Include:
References :
