Achondroplasia Symptoms Short limbs Spinal stenosis Short stature
Achondroplasia
Symptoms • • • Short limbs Spinal stenosis Short stature Prominent forehead Decreased muscle tone
How people inherit the disorder It is a dominant disorder. It occurs on the FGFR 3 chromosome. 80% of people with the disease has normal sized parents.
How are people diagnosed with Achondroplasia? • • Shortening of arms and legs skin folds on limbs Shorter elbow extension radius Trident configuration of hand Bow legs Large head Mid-face incomplete development Narrowing of the distance of the caudal spine
How are people diagnosed with Achondroplasia? Cont. • Notch-like sacroiliac groove • Circumflex or chevron seat on the metaphysis
Treatments available. There is no specific treatment for Achondroplasia. Related abnormalities, including spinal stenosis and spinal cord compression, should be treated when they cause problems.
How Common is Achondroplasia? Achondroplasia is the most common type of short-limbed dwarfism. It occurs in 15, 000 to 40, 000 newborns.
5 interesting facts 1. Average height for a male is 131 centimeters 2. Average height for a females is 124 centimeters 3. Another name for Achondroplasia is dwarfism and ACH 4. Achondroplasia is similar to the disease hypochondroplasia 5. X-Rays of long bones can reveal the disease
Sources cited "Achondroplasia. " - Genetics Home Reference. N. p. , n. d. Web. 15 Feb. 2014. "Achondroplasia: Medline. Plus Medical Encyclopedia. " U. S National Library of Medicine. U. S. National Library of Medicine, n. d. Web. 14 Feb. 2014. "Dwarf Tossing: The Genetics behind Dwarfism. " International Business Times. N. p. , n. d. Web. 15 Feb. 2014.
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