性别分化异常-智力残疾综合征
Difference of sex development-intellectual disability syndrome
ORPHA:2983疾病
定义 英文原文（暂无中文）
A rare multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. There have been no further descriptions in the literature since 1994.
别名
Verloes-Gillerot-Fryns综合征
基本事实
- 遗传方式
- 未知
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 23
极常见 99–80%23
- 毛发分布异常 HP:0010720
- 脸部异常 HP:0000271
- 眼睛深陷 HP:0000490
- 嘴角下弯 HP:0002714
- 膝外翻 HP:0002857
- 性腺功能减退症 HP:0000135
- 阴茎发育不良 HP:0008736
- 智力障碍 HP:0001249
- 脊柱后凸畸形（驼背） HP:0002808
- 后发际低 HP:0002162
- 小耳畸形 HP:0008551
- 后旋耳 HP:0000358
- 骨密度降低 HP:0004349
- 重度感音神经性听力受损 HP:0008625
- 短颈 HP:0000470
- 短鼻 HP:0003196
- 人中短 HP:0000322
- 胸部短小 HP:0010306
- 小阴囊 HP:0000046
- 隐性脊柱裂 HP:0003298
- 连眉 HP:0000664
- 下红唇薄 HP:0000233
- 乳头间距宽 HP:0006610
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）