睑裂狭小-智力障碍综合征，SBBYS亚型
Blepharophimosis-intellectual disability syndrome, SBBYS type
定义 英文原文（暂无中文）
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present.
别名
Say-Barber-Biesecker-Young-Simpson综合征
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 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| KAT6B | lysine acetyltransferase 6B | Disease-causing germline mutation(s) in |
临床表型 43
极常见 99–80%18
- 眼睑裂狭小 HP:0000581
- 蒜头鼻 HP:0000414
- 隐睾 HP:0000028
- 全面发育迟缓 HP:0001263
- 甲状腺功能减退症 HP:0000821
- 肌张力减退 HP:0001252
- 智力障碍 HP:0001249
- 长鼻 HP:0003189
- 低位耳 HP:0000369
- 小下颌 HP:0000347
- 后旋耳 HP:0000358
- 鼻前突 HP:0000448
- 枕骨突出 HP:0000269
- 下颌后缩 HP:0000278
- 严重的身材矮小 HP:0003510
- 短睑裂 HP:0012745
- 额头倾斜 HP:0000340
- 特定的学习障碍 HP:0001328
常见 79–30%23
- 对耳轮形态异常 HP:0009738
- 面颊形态异常 HP:0004426
- 房间隔缺损 HP:0001631
- 房室管缺损 HP:0006695
- 悬雍垂裂 HP:0000193
- 双侧单掌横折痕 HP:0007598
- 手指弯曲 HP:0100490
- 第五指屈指畸形 HP:0004209
- 异位甲状腺 HP:0100028
- 发育迟滞 HP:0001508
- 喂养困难 HP:0011968
- 生长延迟 HP:0001510
- 关节过度活动 HP:0001382
- 小头畸形 HP:0000252
- 动脉导管未闭 HP:0001643
- 羊水过多 HP:0001561
- 反复呼吸道感染 HP:0002205
- 癫痫发作 HP:0001250
- 黏膜下硬裂腭 HP:0000176
- 甲状腺缺如 HP:0008191
- 甲状腺发育异常 HP:0008188
- 甲状腺发育不良 HP:0005990
- 室间隔缺损 HP:0001629
偶见 29–5%2
- 鼻泪管系统的异常 HP:0000614
- 舌瘤 HP:0100648
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）