小眼畸形，Lenz型
Microphthalmia, Lenz type
ORPHA:568疾病
定义 英文原文（暂无中文）
A rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.
别名
Lenz小眼畸形
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 新生儿期
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| BCOR | BCL6 corepressor | Disease-causing germline mutation(s) in |
| NAA10 | N-alpha-acetyltransferase 10, NatA catalytic subunit | Disease-causing germline mutation(s) in |
临床表型 42
极常见 99–80%1
- 小眼症 HP:0000568
常见 79–30%22
- 牙齿形态异常 HP:0006482
- 耳廓形态异常 HP:0000377
- 牙列异常 HP:0000164
- 手指弯曲 HP:0100490
- 脉络膜视网膜缺损 HP:0000567
- 第五指屈指畸形 HP:0004209
- 拇指指骨完全重复 HP:0009943
- 隐睾 HP:0000028
- 手指并指 HP:0006101
- 青光眼 HP:0000501
- 肾积水 HP:0000126
- 输尿管积水 HP:0000072
- 尿道下裂 HP:0000047
- 智力障碍 HP:0001249
- 虹膜缺损 HP:0000612
- 小头畸形 HP:0000252
- 小角膜 HP:0000482
- 视盘缺损 HP:0000588
- 口面裂 HP:0000202
- 后旋耳 HP:0000358
- 肾发育不良/不全 HP:0008678
- 身材矮小 HP:0004322
偶见 29–5%19
- 心血管系统形态异常 HP:0030680
- 异常言语模式 HP:0002167
- 锁骨形态异常 HP:0000889
- 肩部形态异常 HP:0003043
- 睑缘粘连 HP:0009755
- 胼胝体发育缺陷/发育不全 HP:0007370
- 白内障 HP:0000518
- 牙齿萌出延迟 HP:0000684
- 听力受损 HP:0000365
- 脊柱前凸过度 HP:0003307
- 脊柱后凸畸形（驼背） HP:0002808
- 长胸廓 HP:0100818
- 眼球震颤 HP:0000639
- 耳前皮赘 HP:0000384
- 脊柱侧弯 HP:0002650
- 癫痫发作 HP:0001250
- 自伤行为 HP:0100716
- 视觉障碍 HP:0000505
- 蹼颈 HP:0000465
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）