Achondroplasia- What is It?

Achondroplasia is the most common form of dwarfism that we see. It is a disorder that basically distorts the skeletal system, that is evident straight from birth. The structure of your body is different from the "average" human beings.

Type of Genetic Mutation

It is an autosomal dominant disorder.

Someone with achondroplasia will have these physical features:

* uneven or distorted head to body ratio (their heads are bigger than a humans normally is and bodies noticeably smaller)

* the long and ring fingers will have a larger amount of space between them compared to that of a human who does not have achondroplasia.

* their foreheads are not proportionate to their heads, the forehead will be visibly large.

* Again. the proportion of their bodies will be unique. The arms and legs will appear too short for their body.

* They will be distinctly shorter than the average human.

* they may have issues with spinal stenosis

* they may have spinal curvatures called kyphosis and lordosis

* they will have deceased muscle tone

* rather than having their legs straight when standing, the will have a curve, or they will have bowed legs.

bow_legged.jpgachondroplasia_littleguy.jpg

What type of Genetic Disorder Is it?

It is an autosomal dominant disorder.

Epidimiology

There is no absolute, reliable ratio available for achondroplasia, but a study in the Netherlands showed for every 100,000 successful births, 1 baby will be born with achondroplasia. Contradicting this though, was a study finalized at the same time, showing for every 10,000 babies born, only one will have achondroplasia.

Prognosis

People born with achondroplasia will on average have a height of a little less than 5 feet. In all cases the person's intelligence will not be affected by the disorder. Sadly, though, any child who recieves the gene that says you have achondroplasia from both parents, will no longer be alive by a few months after its birth.

Treatments

There is no cure for achondroplasia, many of its side effects simply deal with how someone will look physically, it does not harm the person, they just look abnormal. The side effects that may show up later on, such as spinal stenosis and spinal cord compression, may cause seriously harmful damage but are fixable with the right treatment. Spinal stenosis in some cases can be dealt with for years without it being a problem, but can sometimes cause serious problems that must be fixed. If this is the situation, physical therapy or, if absolutely neccessary, spine surgery should relieve the symptoms. Spinal cord compression can also be treated with doctor approved surgical procedures, as well as radiation therapy, and with taking doses of dexamethosone.

Diagnosis

Like stated before, achondroplasia is not an internal disorder, but one that causes distinct physical abnormalities in a human that a doctor would be able to detect quickly. But besides simply looking at the newborn child, ultrasounds can detect it prior to the babies birth. X-rays can also help confirm the presence of the disorder, as well as other techniques.


Bibliography:
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002544/