严重软骨发育不全-发育迟缓-黑棘皮病综合征
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
ORPHA:85165疾病
定义 英文原文（暂无中文）
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).
别名
SADDAN
基本事实
- 遗传方式
- 常染色体显性、不适用
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| FGFR3 | fibroblast growth factor receptor 3 | Disease-causing germline mutation(s) in |
临床表型 14
极常见 99–80%9
- 黑棘皮病 HP:0000956
- 下颌骨发育不良/发育不全 HP:0009118
- 脑萎缩 HP:0012444
- 小脑增大 HP:0012081
- 全面性发作 HP:0002197
- 胼胝体发育不良 HP:0002079
- 重度智力障碍 HP:0010864
- 干骺端软骨发育不良 HP:0005871
- 严重的全面性发育迟缓 HP:0011344
常见 79–30%5
- 锁骨形态异常 HP:0000889
- 股骨弯曲 HP:0002980
- 腓骨弯曲 HP:0010502
- 小头畸形 HP:0000252
- 胫骨弯曲 HP:0002982
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）