无眼畸形加综合征
Anophthalmia plus syndrome
ORPHA:1104疾病
定义 英文原文（暂无中文）
A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.
别名
小眼畸形伴面裂
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
临床表型 15
极常见 99–80%1
- 无眼畸形 HP:0000528
常见 79–30%7
- 鼻形态异常 HP:0005105
- 鼻后孔闭锁 HP:0000453
- 腭裂 HP:0000175
- Tessier裂 HP:0002006
- 眼距过宽 HP:0000316
- 上唇非中线裂 HP:0100335
- 后旋耳 HP:0000358
偶见 29–5%7
- 耳垂发育缺陷/不全 HP:0009906
- 眼睑裂狭小 HP:0000581
- 手指偏离 HP:0004097
- 眼睑缺损 HP:0000625
- 虹膜缺损 HP:0000612
- 脊柱裂 HP:0002414
- 椎体分节缺陷 HP:0003422
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）