眼耳椎骨异常伴桡骨缺陷
Oculoauriculovertebral spectrum with radial defects
定义 英文原文（暂无中文）
A rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.
别名
半侧颜面短小畸形-桡骨缺损综合征
基本事实
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 31
极常见 99–80%7
- 心血管系统形态异常 HP:0030680
- 内耳异常 HP:0000359
- 拇指发育不全或发育不良 HP:0009601
- 面部不对称 HP:0000324
- 喉喘鸣 HP:0006511
- 小耳畸形 HP:0008551
- 下颌支短 HP:0003778
常见 79–30%13
- 中耳听小骨异常 HP:0004452
- 外耳道闭锁 HP:0000413
- 房室管缺损 HP:0006695
- 认知功能损害 HP:0100543
- 远端尿道重复畸形 HP:0008706
- EMG:肌病样异常 HP:0003458
- 口面裂 HP:0000202
- 耳前凹陷 HP:0004467
- 耳前皮赘 HP:0000384
- 肾发育不良/不全 HP:0008678
- 感音神经性听力受损 HP:0000407
- 身材矮小 HP:0004322
- 膀胱输尿管返流 HP:0000076
偶见 29–5%11
- 生殖系统异常 HP:0000078
- 眼睛发育缺陷/不全 HP:0008056
- 肺发育缺陷/不全 HP:0006703
- 腭裂 HP:0000175
- 传导性听力受损 HP:0000405
- 肛门异位 HP:0004397
- 母体糖尿病 HP:0009800
- 上唇非中线裂 HP:0100335
- 轴前多指 HP:0001177
- 三指节拇指 HP:0001199
- 宽嘴 HP:0000154
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）