Achondroplasia By: Cassidy high

What It Is Achondroplasia is a bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult. People with achondroplasia are short in stature with a normal sized torso and short limbs. It is the most common type of disproportionate dwarfism. Means “without cartilage formation”

Causes In this genetic disorder, the cartilage does not convert into bone, this is due to a mutation in the FGFR3 gene. FGFR3 gene instructs the body to make a protein necessary for bone growth and prevents the growth of cartilage at the growth plate

Health Issues Slow or stopped periods of breathing Recurrent ear infections Sway back and bow legs Spinal stenosis (narrowing of spinal canal) Hydrocephlus (buildup of fluids in the brain)

Treatment Growth hormones can be given to patients Various surgeries can be applies to help, the most common surgeries have to do with the spine Speech therapists, orthodontists, geneticst, pulmonologists, and pediatricians can help with aspects of living with the disorder and the counseling for families

Other Facts Occurs in 1 in 15,000- 40,000 newborns It is inherited in an autosomal dominant pattern Also called ACH and achondroplastic dwarfism Affects physical characterists, while intelligence is normal There is a normal life expectancy 2%- 5% of children die from it