軟骨發育不全症
Also known as Chondrodystrophia, osteosclerosis congenita, achondroplastic physique, achondroplastic dwarfism
Achondroplasia is a genetic disorder whose primary feature is dwarfism. It is the most common cause of dwarfism and affects about 1 in 27,500 people. In those with the condition, the arms and legs are short, while the torso is typically of normal length. Those affected have an average adult height of for males and for females. Other features can include an enlarged head with prominent forehead (frontal bossing) and underdevelopment of the midface (midface hypoplasia). Complications can include sleep apnea or recurrent ear infections. Achondroplasia includes the extremely rare short-limb skelet
Key facts
- Medical condition (new).name
- Achondroplasia
- Medical condition (new).image
- Jason Acuña - Wee-Man - Waterfront Marriott, Portland, Oregon - August 15, 2009 - Full Body.jpg
- Medical condition (new).caption
- Jason "Wee Man" Acuña, an American actor and stunt performer with achondroplasia
- Medical condition (new).width
- 150px
- Medical condition (new).field
- Medical genetics
- Medical condition (new).symptoms
- Short arms and legs, enlarged head, prominent forehead
- Medical condition (new).complications
- Ear infections, hyperlordosis, back pain, spinal stenosis, hydrocephalus
- Medical condition (new).onset
- Congenital
- Medical condition (new).duration
- Lifelong
- Medical condition (new).causes
- Genetic (autosomal dominant mutation in the FGFR3 gene)
- Medical condition (new).risks
Article · 中文
軟骨發育不全症(Achondroplasia)是一種顯性遺傳病，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」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。
Abstract from DBpedia / Wikipedia · CC BY-SA