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GENETIC DISORDER:
PSEUDOACHONDROPLASIA
What Is It?

This disorder is called Pseudoachondroplasia, it is a type of short-limb dwarfism. The method of inheritance is autosomal dominant pattern. The location of the disorder on the chromosome is comp gene which is the cartlage ollgomeric marrix protein. There are multiple ways on how to test for the disorder, first there is something called sanger sequencing which is a sequence analysis of the entire coding region. Another, is something called Comp gene sequencing which is a mutation scanning of the entire coding region. Some symptoms include: Short arms and legs, a waddling walk, joint pain in childhood, limited range of motion at elbows, and curved limbs (valgus).
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