What is Achondoplasia? 

Achondroplasia is a genetic disorder where FGFR3 gene receptor is dysfunctional. Achondroplasia is a sex-linked disorder and is passed through the x chromosome, thus meaning either parent may pass it if they are a dominant carrier. Most dwarfs have normal sized parents and are not lethally infected. However if a dwarf has a child there is a 50% higher chance of a dwarf offspring. This doesn't mean that this automatically results in a dwarf offspring, infact some families with 2 dwarf parents have normal sized children. Its all in the genes. However if both parents are dwarf there is also a 25% higher chance of the lethal form of dwarfism where the babies are so small there is a 0% chance of survival. You Achondroplasia is a dominant gene.  Affects mainly Russians and Kazacstanians

For more information go to:http://www.medicinenet.com/achondroplasia/article.htm

and see punnett square and pedigree below

Achondroplasia has many clear appearence mutations

• Short stature
• shortening of the arms and legs with redundant skin folds on limbs
• Limitation of elbow extension
• Trident configuration of the hands
• bow legs
• Thoracolumbar gibbus in infancy
• Exaggerated lumbar lordosis, which develops when walking begins
• Large head with frontal bossing
• Midface hypoplasia 
• 

Early Diognoses 

Achondroplasia may also be diognosed durring pregnancy with the help of an ultrasound. This is more likely possible if there is a high likelyness of an affected baby. In the case that one paret is already affected with Achondroplasia, pre diognoses is very useful. Doctors want to rule out the possibility of the fatal syndrome of homozygous anchdroplasia. The baby gets a double whamy and recieves homozygous achondroplasia from a heterozygous parent.  Babies born with homozygous achondroplasia are too small to survive and in many cases die either inside the birth canal or shortly after birth.

Helpful Diognoses websites

• www.medicinenet.com/achondroplasia
• http://ghr.nlm.nih.gov/condition=achondroplasia