How do you know if you or someone else has Achondroplasia? Here are the physical symptoms:
- short stature, a long trunk, shortened limbs; which are noticed at birth
- an adult height of between 42 and 56 inches
- a head that is large and a forehead that is prominent: portions of the face can be under developed
- at birth, the legs appear straight, but as the child begins to walk, he/she develops a knock-knee or bowed leg deformity
- the hands and feet appear large, but the fingers and toes are short and stubby
- straightening of the arm at the elbow may be limited, but usually does not keep one from doing any specific activities
- children may develop an excessive curve of the lower back and a waddling walking pattern
Other Possible Symptoms:
- dental problems (from overcrowding teeth)
- weight control problems
- neurologic and respiratory problems
- fatigue, pain numbness in the lower back and spine
For more on the symptoms of Achondroplasia, head here
A diagnosis for Achondroplasia can be done at any age, but is typically done at birth. Generally diagnosing a person though, the doctor asks about your symptoms and medical history, and a physical exam will be performed. The strength of your extremities and your bladder control will be evaluated. weakness and loss of bladder are both signs of "spinal stenosis", one of the deformities that somes with dwarfism:
It is important to follow the doctors advice to make sure spinal stenosis does not develop. For further examinations and procedures, doctors may use the following to examine your bodily structures to have a more accurate diagnosis:
- Radiographs
- MRI Scans
- CT Scan
- X-Rays
For more information on spinal stenosis go to here:
http://www.niams.nih.gov/Health_Info/Spinal_Stenosis/
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