Who Discovered Achondroplasia ?  

Who Discovered Achondroplasia

            Achondroplasia is a genetic disease, but a rare one. It is the disease causing dwarfness. The patients suffering from this have short stature. The male patients with the affliction will be around 4 feet 3 and half inches or 131 centimeters, and female patients will be around four feet or 123 centimeters.More...

 

How Is Achondroplasia Inherited ?

How Is Achondroplasia Inherited            Achondroplasia is a disease affecting the growth of the bones. The matter that connects the bones is called cartilage. In achondroplasia the cartilage is also affected. So, resultantly the growth of bone is stunted. Usually calcium is deposited in the cartilage, and in the normal course, it thickens and develops as bone.More...

 

History Of Achondroplasia

History Of Achondroplasia             Achondroplasia is a genetic disorder affected the growth of bones. It leads to a type of dwarfism where the people afflicted by the condition are of small stature. However, the gene causing the disorder was only discovered in 1994 by Dr. John Wasmuth. While working with his colleagues, Wasmuth discovered that a mutation in the fibroblast growth factor receptor 3 gene present in chromosome 4 caused this genetic condition.More...

 

Cause Of Achondroplasia

Cause Of Achondroplasia              Achondroplasia has two causes possibly. The first one is genetic, and the other one is due to genetic mutation within the gene. It means that it can even without the parents having it. If one of the parents has it, the children have 50 percent chance of getting it. If both the parents have it, every child out four will have the chance to inherit it.More...

 

Physical Symptoms Of Achondroplasia

Physical Symptoms Of Achondroplasia             The meaning of achondroplasia literally is 'without bones'. It is a disease of the bones. Normally, in human beings, the cartilage of the bones, in the course of time, gets converted into bones. The disease is mainly due to non convertibility of the cartilage into bones. The cartilage instead of getting into bone gets thickened. It is called ossification.More...

 

Current Research For Achondroplasia

Current Research For Achondroplasia               Achondroplasia is a genetic disorder that is associated with the fibroblast growth factor receptor 3, or FGFR3. This gene causes problems with the bong growth where in the bones of the body, vertebrae and ribs end up being non elongated and narrowed. When it comes to humans, achondroplasia is confirmed through X-rays and ultrasound tests.More...

 

 

 

    
 

 

What-Is-Achondroplasia      Achondroplasia is a disease with shortness in appearance. It is a rare disease, and either inherited or due to gene mutation. The cartilage in achondroplasia patients does not form properly, and that is the sole cause of the ailment. Their bones do not grow to normal size as in other people. Hence, they do not grow more than four feet in height. More..

 


 

 

 
   
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