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Achondroplasia - Coggle Diagram
Achondroplasia
What are the symptoms?
Abnormal bone growth
short stature with disproportionately short arms and legs
short fingers
large head
specific facial features with a prominent forehead
mid-face hypoplasia
Intelligence and Life Span is normal
Breathing problems - breathing stops or slops down for short periods
What is the treatment for achondroplasia?
No treatment is available for Achondroplasia.
Height, weight, and head circumference is monitored using special growth curves
MRI or CT scan may be needed for evaluation of muscle weakness.
What is Achondroplasia?
Disorder of bone growth
the most common form of disproportionate short stature
How is Achondroplasia diagnosed?
Diagnosed by characteristic clinical and X ray findings
Genetic Testing can identify mutations in 99 percent of individuals who have achondroplasia
Most cases of Achondroplasia are not inherited