Genetic disorder: Achondroplasia

Means without cartilage formation.

Another name for Achondroplasia  is Dwarfism.

Achondroplasia is problem in your bone growth, it happens in to one in every 40,000 births.

Table of Contents:

Page 1.) Symptoms and Complications  

page 2.) Inheritance and Mutation

page 3.) Treatment and U.S Graph

page 4.) Citations and external links

This is what a child with Achondroplasia looks like.

Symptoms of Achondroplasia

Symptoms for this disorder are swelled fingers, short arms and legs, and an over large head.

Complications for this disorder are spinal stenosis (compression of the spinal cord), restrictive and obstructive lung disease (chances at getting either really big lungs or really small lungs, tibial bowing, and other complications.

Inheritance and Mutations

Achondroplasia is not commonly inherited, but when it is inherited it is autosomal dominant.

Autosomal dominant is when you get one abnormal gene from one parent, you can get the disease.

Achondroplasia is a mutation and is on the FGFR3 gene and the chromosome number is chromosome 4.

Detection of Carriers

There are no possible carriers for this disease.

You either have the disease or you don't have it.

Treatment and U.S World graph

The treatments for this disease are not yet discovered, but if you have this disease make sure you have your height, weight, and head circumference monitored.

U.S Graph that is affected by Achondroplasia.

Citations and external links

External links

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