This is to give background information regarding Achondroplasia (A-con-drow-play-ja). Achon for short is a form of dwarfism. Currently there are know to be over 200 forms of dwarfism. Our youngest son, Knoah has Achondroplasia.

AchondroplasiaAchondroplasia is the most common form of short-limb dwarfism. It occurs in approximately 1 in 26,000 to 1 in 40,000 births. The characteristic features of achondroplasia are apparent at birth. These include typical facial features, disproportionate short stature, and rhizomelic (the proximal ends of the limbs) shortening. Diagnosis of achondroplasia is made by physical exam and skeletal x-rays. Most individuals have normal intelligence. Infants and children often have motor delays but cognitive delays are not present. A special infant developmental chart has been made for children with achondroplasia. Final adult height is in the range of 4 feet. Special achondroplasia growth curves have also been made. These should be used by the child’s pediatrician to monitor growth and development.Or in layman’s terms, Knoah’s head and torso are average lenght, his arms and legs are short. Achon happens 90% of the time as a unexpected gene mutation. Most little people are born to average height parents. Our other children have no more chance of producing a child with achon, than my husband and I do if we choose to have another child. Knoah on the other hand could produce a child with achon. Another post will explain the genetics of this.

So in short (no pun intended) Achondroplasia is this:

“without cartilage”. Knoah’s body is able to make cartilage, but it doesn’t convert it to bone, hence the short stature!