Achondroplasia

Dwarfism

What?

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.

Symptoms

New Borns- Short Stature, short arms and legs (especially the upper arms), large head, underdevelopment of the mid-face.

Children/Adults- Have difficulty bending elbows, struggle with obesity, experience recurrent ear infections, develope bowed legs, spinal stenosis.

Who?

Is an inherited disease and mostly it affects new borns it comes from the FGFR3 gene, which stands for Fibroblast Growth Factor Receptor 3.

Treatment/Cure

There is no cure or treatments. Antibiotics are given for the ear infections, and surgery may be preformed in severe cause of spinal stenosis.

Famous People

Chromosomes

This disease comes from the FGFR3 gene Which provides instructions for making a protein called fibroblast growth factor receptor 3. This protein is part of a family of four fibroblast growth factor receptors that share similar structures and functions.

Facts

  1. 1.It can be diagnosed early.

    2. Achondroplasia is one of the first documented birth defects.

    3. There are dramatic regional variations of Achondroplasia.

    4.It causes amazing flexibility and amazing rigidity at the same time.

    5.There are no other deficits present in Achondroplasia.



Difference

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Spinal Stenosis

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Spinal stenosis