扁平椎骨发育异常，Torrance型
Platyspondylic dysplasia, Torrance type
ORPHA:85166疾病
定义 英文原文（暂无中文）
Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.
别名
扁椎骨致死性骨骼发育不良，Torrance型
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 产前、婴儿期、新生儿期
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| COL2A1 | collagen type II alpha 1 chain | Disease-causing germline mutation(s) in |
临床表型 25
极常见 99–80%15
- 腹胀 HP:0003270
- 腕骨形态异常 HP:0001191
- 长骨弯曲 HP:0006487
- 不相称的短肢矮小 HP:0008873
- 股骨近端骨骺发育不全 HP:0003090
- 骨盆发育不良 HP:0008839
- 干骺端内陷 HP:0003021
- 短肢 HP:0002983
- 窄胸 HP:0000774
- 扁平椎 HP:0000926
- 末节指骨短 HP:0009882
- 短足 HP:0001773
- 短掌 HP:0004279
- 胸部短小 HP:0010306
- 骨骼发育不良 HP:0002652
常见 79–30%9
- 鼻梁塌陷 HP:0005280
- 膝内翻 HP:0002970
- 胎儿水肿 HP:0001789
- 肩胛骨发育不全 HP:0000882
- 低位耳 HP:0000369
- 颧骨扁平 HP:0000272
- 羊水过多 HP:0001561
- 前额中央突出 HP:0011220
- 肺发育不良 HP:0002089
偶见 29–5%1
- 腭裂 HP:0000175
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）