Achondroplasia

Made by:Kelsey jasso

What achondroplasia is?

  1. A hereditary condition in which the growth of long bones by ossification of cartilage is retarded, resulting in very short limbs and sometimes a face that is small in relation to the (normal-sized) skull.




What the symptoms are?

  • Short arms and legs
  • Short fingers
  • Large head compared to the body
  • Abnormally large forehead

Treatment/cure

There are no cure or specific treatment for achondroplasia.

Who?

Anyone can get it but more than 80%of the cases is not inherited

Achondroplasia happens 1 in every 25,000 live births

It is common in males and females.

  • If one parent has it then the chid has a 50% chance of getting achondroplasia but if both parents has it then the child has......
  • 25% chance of normal stature
  • 50% chance of having one defective genes, causing achondroplasia
  • 25 percent chance of inheriting two defective genes. This results in a fatal form of achondroplasia called homozygous achondroplasia. Infants with this condition are generally stillborn or die within a few months of birth.


  • In dwarfism a lot of the cartilage does not convert this is caused by mutations in the FGFR3 gene.

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Chromosomes?

Chromosome 4 is affected in achondroplasia.