LD24.51
季肋成长不全
Hypochondrogenesis
- 上级条目
- LD24.5 脊椎板发育不良
- 层级
- 5 级
定义
由于COL2A1基因突变导致产前骨骼系统未能正常发育而引起的一种疾病。这种疾病的特点是身材矮小、四肢短小、肺部发育不全、面部扁平呈椭圆形、眶距增宽症、小颌畸形、腹部肿大以及脊柱和骨盆骨化。这种情况也可能表现为腭裂。
A condition caused by failure of the skeletal system to correctly develop during the antenatal period, due to mutation of the COL2A1 gene. This condition is characterised by a small body, short limbs, underdeveloped lungs, flat and oval-shaped face, hypertelorism, micrognathia, enlarged abdomen, and ossification in the spine and pelvis. This condition may also present with a cleft palate.
索引词 可用于检索该条目的同义词与别名
- 季肋成长不全
英文词条（1）
- Hypochondrogenesis
后组配轴 Postcoordination
该条目未定义后组配轴，直接使用上面的编码即可。后组配是在主干编码之后追加侧别、具体解剖部位、严重程度、病因等细节的可选组合方式，不是必填项。