軟骨發育不全症

軟骨發育不全症（）是一種顯性遺傳性疾病，患者位於第四對染色體上基因「纖維芽細胞生長因子第三號接受體」（FGFR3）出現缺陷，引致骨骼發育不良，身材比較矮小、鼻樑塌陷、脊椎彎曲、手指腳趾粗短、下肢較短且常呈Ｏ型腿等現象，大多數患者的智能完全正常。

其發生率為1/15000至1/40000。

遺傳方面，其絕大多數是因為基因突變所致、也有由單基因從一代傳給下一代、精子或卵子在形成時發生FGFR-3的基因突變或父母一方有軟骨發育不全。

參考資料
*[https://web.archive.org/web/20121027175243/http://www.genes-at-taiwan.com.tw/genehelp/ 罕見遺傳疾病一點通]

外部連結
*

• [http://restrictedgrowth.co.uk UK Support charity for individuals and families with Achondroplasia and other forms for restricted growth]
• [http://www.lpaonline.org USA support group for little people]
• [http://www.growingstronger.org USA based group supporting dwarfism through research]
• [http://2.bp.blogspot.com/_HenHxkJoynE/SuZbDNAJ1rI/AAAAAAAAAB8/UPEcBwKaTdw/s1600-h/12366-0550x0475.jpg Infographic] on [https://web.archive.org/web/20141223173455/http://bahtiar-informasi.blogspot.in/2009/10/achondroplasia.html Achondroplasia], Bahtiar - Informasi
• [http://www.bellarmine.edu/faculty/drobinson/documents/Achondroplasia1-LauraLund.ppt Achondroplasia]