肢端肢中发育不良，Hunter-Thompson型
Acromesomelic dysplasia, Hunter-Thompson type
ORPHA:968疾病
定义 英文原文（暂无中文）
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.
别名
肢端肢中性侏儒症
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| GDF5 | growth differentiation factor 5 | Disease-causing germline mutation(s) (loss of function) in |
临床表型 18
极常见 99–80%9
- 异常言语模式 HP:0002167
- 脚踝异常 HP:0003028
- 肢端发育不良 HP:0003086
- 双侧单掌横折痕 HP:0007598
- 短指（趾） HP:0001156
- 肘关节脱位 HP:0003042
- 严重的短肢侏儒症 HP:0008890
- 短拇指 HP:0009778
- 跗骨骨性融合 HP:0008368
常见 79–30%9
- 骨盆带骨形态异常 HP:0002644
- 腕骨形状异常 HP:0006014
- 认知功能损害 HP:0100543
- 骰子形掌骨 HP:0006011
- 髋关节脱位 HP:0002827
- 关节僵硬 HP:0001387
- 髌骨脱位 HP:0002999
- 脊柱侧弯 HP:0002650
- 掌骨短 HP:0010049
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）