Achondroplasia Research Paper

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Achondroplasia
In humans achondroplasia is the most common form of non-lethal skeletal dysplasia (short limb dwarfism), affecting over 250,000 people worldwide. The incidence is approximately one in 10,000-30,000 live births. (1-7) Achondroplasia is characterised by short stature (average height of 120-132cm (2,3)) with disproportionately shorter proximal limb bones, a long trunk with a narrow thorax, macrocephaly with frontal bossing and mid face hyperplasia. (1-4) People with achondroplasia also have short broad hands with trident like appearance of the fingers, thoraco-lumbar kyphosis and bow leg deformity due to a faster growth rate of the fibula relative to the tibia. There are also many more pathological features due to the varied effects
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The increase in signalling from the FGFR3, expressed in articular chondrocytes, (2) means that the normal function of FGFR3 of inhibiting proliferation and terminal differentiation of growth plate chondrocytes is increased. (1) This results in greater inhibition of linear bone growth by shortening the proliferative phase. (1,6)

Word count: 672
References:
(1) Horton W, Hall J, Hecht J. Achondroplasia. Lancet. 2007;370(9582):162-172.
(2) Amirfeyz R, Gargan M. Achondroplasia. Current Orthopaedics. 2005;19(6):467-470.
(3) Baujat G, Legeai-Mallet L, Finidori G, Cormier-Daire V, Le Merrer M. Achondroplasia. Best practice & research Clinical rheumatology. 2008;22(1):3-18.
(4) Wright M, Irving M. Clinical management of achondroplasia. Archives of Disease in Childhood. 2011;97(2):129-134.
(5) He L, Serrano C, Niphadkar N, Shobnam N, Hristova K. Effect of the G375C and G346E Achondroplasia Mutations on FGFR3 Activation. PLoS ONE. 2012;7(4):e34808.
(6) He L, Horton W, Hristova K. Physical Basis behind Achondroplasia, the Most Common Form of Human Dwarfism. Journal of Biological Chemistry. 2010;285(39):30103-30114.
(7) Ireland P, Pacey V, Zankl A, Edwards P, Johnson L, Savarirayan R. Optimal management of complications associated with achondroplasia. TACG.

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