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Gentics Disorders Project

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Kayla Luken

on 16 June 2010

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Transcript of Gentics Disorders Project

Achondroplasia By, Patrick Stover and Kayla Luken Achondroplasia is a genetic disorder that disturbs normal growth of cartilage, resulting in a form of Dwarfism. Symptoms of Achondroplasia..
Many symptoms are involved with dwarfism such as
1. * Abnormal hand appearance with persistent space between the long and ring fingers
* Bowed legs
* Decreased muscle tone
* Disproportionately large head-to-body size difference
* Prominent forehead (frontal bossing)
* Shortened arms and legs (especially the upper arm and thigh)
* Short stature (significantly below the average height for a person of the same age and sex)
* Spinal stenosis
* Spine curvatures called kyphosis and lordosis Chances of getting Dwarfism...

Achondroplasia may be inherited as an autosomal dominant trait, which means that if a child gets the defective gene from one parent, the child will have the disorder. If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant's chances of being affected increase to 75%.

However, most cases appear as spontaneous mutations. This means that two parents without achondroplasia may give birth to a baby with the condition. This dwarf has ...
1. Bowed legs
2. Large head
3. Prominent forehead
4. short arms and legs Life expectancy..

People with achondroplasia seldom reach 5 feet in height. Intelligence is in the normal range. Infants who receives the abnormal gene from both parents do not often live beyond a few months. There are currently no cures. Treatment involves preventing or treating the signs, symptoms, or health conditions that occur as a result of the disorder
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