软骨发育不良-性别分化异常综合征
Chondrodysplasia-difference of sex development syndrome
定义 英文原文（暂无中文）
A rare difference of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia.
别名
Nivelon-Nivelon-Mabille综合征
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
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| HHAT | hedgehog acyltransferase | Disease-causing germline mutation(s) (loss of function) in |
临床表型 22
极常见 99–80%14
- 骨盆带骨形态异常 HP:0002644
- 肩部形态异常 HP:0003043
- 长骨增宽 HP:0005622
- 颅骨骨化增加 HP:0004330
- 智力障碍 HP:0001249
- 胎儿宫内发育迟缓 HP:0001511
- 巨耳畸形 HP:0000400
- 小头畸形 HP:0000252
- 短肢 HP:0002983
- 窄胸 HP:0000774
- 严重的身材矮小 HP:0003510
- 掌骨短 HP:0010049
- 指骨短 HP:0009803
- 内眦距过宽 HP:0000506
常见 79–30%8
- 眼睑裂狭小 HP:0000581
- 脑发育不全 HP:0006872
- 脉络膜视网膜缺损 HP:0000567
- 眼睛深陷 HP:0000490
- 虹膜发育不全 HP:0007676
- 男性假两性畸形 HP:0000037
- 瞳孔缩小 HP:0000616
- 斜视 HP:0000486
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）