胫骨发育不良-先天性缺指(趾)畸形
Tibial aplasia-ectrodactyly syndrome
ORPHA:3329疾病
定义 英文原文（暂无中文）
A rare syndrome with limb reduction defects characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Clinical presentation is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo- or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears.
别名
长骨发育不全相关性手足裂畸形
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
- 患病率
- 1-9 / 1 000 000（Europe）
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| BHLHA9 | basic helix-loop-helix family member a9 | Major susceptibility factor in |
临床表型 18
极常见 99–80%1
- 手劈裂 HP:0001171
常见 79–30%3
- 胫骨发育不全或发育低下 HP:0005772
- 缺趾/指畸形 HP:0100257
- 关节活动受限 HP:0001376
偶见 29–5%14
- 腓骨形态异常 HP:0002991
- 股骨形态异常 HP:0002823
- 尺骨发育不良/发育不全 HP:0006495
- 短指（趾） HP:0001156
- 股骨弯曲 HP:0002980
- 腓骨发育不良 HP:0003038
- 手指并指 HP:0006101
- 脐膨出 HP:0001539
- 耳轮过度卷曲 HP:0000396
- 髌骨发育不全 HP:0006443
- 腘窝翼状胬肉 HP:0009756
- 轴后多指畸形 HP:0001162
- 轴前多指 HP:0001177
- 短股骨 HP:0003097
外部标识与链接
OrphanetOMIM:119100OMIM:610685OMIM:612576MONDO:0018050GARD:1369ICD-10 Q73.8ICD-11 LD26.0ClinicalTrials.gov 检索
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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）