Interesting Facts About Achondroplasia

1) Achondroplasia is a bone dysplasia caused by a genetic disorder, and it’s the primary cause of dwarfism.

2) 75% of the cases are new mutations, and the remaining 25% are autosomal dominant disorders, i.e., inherited from the parents.

3) The disorder consists of a modification to the DNA caused by alterations in the receptor of the growth factor of the fibroblasts, which generates anomalies in the formation of cartilage and therefore in the growth of the bones.

4) The condition is present in one out of every 25,000 children born alive.

5) If two people with achondroplasia have a child, there is a 50% chance of inheriting the condition, a 25% chance of having a baby of average height and a 25% chance that the baby has what is known as “double ” domain of the achondroplasia. The latter is in all cases fatal in childhood.

6) Babies born with double dominance suffer from tiny ribs, such as severe brain abnormalities.

7) The expected stature for persons with Achondroplasia is 51.5 inches for men and 48.4 inches for females; however stature can be as short as 24.7 inches in some cases.