纤维软骨增生
Fibrochondrogenesis
定义 英文原文（暂无中文）
A rare, rhizo-mesomelic dysplasia characterized by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period persents with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss.
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| COL11A1 | collagen type XI alpha 1 chain | Disease-causing germline mutation(s) (loss of function) in |
| COL11A2 | collagen type XI alpha 2 chain | Disease-causing germline mutation(s) in |
临床表型 29
极常见 99–80%14
- 骨干形态异常 HP:0000940
- 椎体形态异常 HP:0003312
- 干骺端形态异常 HP:0000944
- 肋骨形态异常 HP:0000772
- 钟形胸 HP:0001591
- 短指（趾） HP:0001156
- 宽肋骨 HP:0000885
- 窄胸 HP:0000774
- 眼球突出 HP:0000520
- 圆脸 HP:0000311
- 短颈 HP:0000470
- 短肋 HP:0000773
- 身材矮小 HP:0004322
- 前囟增宽 HP:0000260
常见 79–30%10
- 鼻孔前翻 HP:0000463
- 腭裂 HP:0000175
- 鼻梁塌陷 HP:0005280
- 下斜睑裂 HP:0000494
- 听力异常 HP:0000364
- 指甲发育不良 HP:0001804
- 肩胛骨发育不全 HP:0000882
- 低位耳 HP:0000369
- 小口畸形 HP:0000160
- 呼吸功能不全 HP:0002093
偶见 29–5%5
- 手指弯曲 HP:0100490
- 眼距过宽 HP:0000316
- 短肢 HP:0002983
- 脐膨出 HP:0001539
- 斜头畸形 HP:0001357
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）