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What is Achondroplasia?
Many people wonder, "What is Achondroplasia?"
Achondroplasia is one of the most common forms of short limb dwarfism.
Achondroplasia is a bone growth disorder that affects 1 in every 15,000 to 40,000 births.
Achondroplasia is called an autosomal dominant condition.

So What does all that mean?

Well some one with Achondroplasia, is person who is going to be fairly small,infact the average adult height in Achondroplasia is about 4 ft for both men and women. The Life span of a person in 'normal'and intelligence is also 'normal' Every thing you may need to know is in the 'indepth section' found on the left in the menu.

I hope you find this information helpful and on your travels around the World wide web,you will come across strange descriptions and strange sayings, like'disease' this is a condition and not a disease!! also words like midget are often found.

they are what they are 'small people' Little people'most of all they are just like me and you, just smaller.It would be a strange world if we all looked the same.
Characteristics of Achondroplasia

include disproportionate short stature, this means the legs and arms are short compared to the trunk (body) this shortness is more noticeable in the upper arms and legs (proximal)

Other signs are a prominent forehead (frontal bossing), a protruding jaw, flat or even depressed area between the eyes. Occasionally crowded teeth and upper and lower teeth poorly aligned. Achondroplasia occurs in all races with equal frequency in males and females Achondroplasia affects 1 in 25,000 to 1 in 40,000 children.

The legs of a person with Achondroplasia almost always become bowed., and sometimes the elbows cannot be straighten completely.

The hands are short and stumpy and the feet may be short flat and broad.

So what is the cause of Achondroplasia?

A chemical change within a single gene causes Achondroplasia. It is not caused from anything the parents have done during pregnancy or before, the condition has started from a autosomal dominate condition. What this means is that a new mutation or genetic change has started during conception. The condition may also be passed on from one generation to the next; nine out of ten children born with this condition have average-sized parents. If one parent has Achondroplasia there is a 50% chance there child will inherit a single copy of the gene, if both parents have Achondroplasia there is a 25% chance the child will have a double dominant gene and a 75% chance of a single Achondroplasia gene: The gene is called FIBROBLAST GROWTH FACTOR RECEPTOR (FGFR3)

Related physical/neurological conditions.

Children with this condition have a tendency towards middle-ear infections this may happen until five or six years of life, this may be due to abnormal drainage from the tube that leads from the middle ear to the throat. Respiratory problems can occur in infants and children, (due to narrowed nasal passages) A person with Achondroplasia should have the same life-span as a some one with out the condition. Hydrocephalus (water on the brain) can also develop in some cases of Achondroplasia. Children with Achondroplasia may reach motor milestones of development differently and more slowly than children without the condition e.g.: the child with Achondroplasia may take longer to sit up than a child with out the condition - but there are exceptions.

 

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Rob styles

 


 

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