Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome
定义 英文原文（暂无中文）
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay (in some patients also severe language deficiency), intellectual disability, hypotonia, peculiar brain malformations (including dysplastic corpus callosum, cortical malformations included dysgyria and polymicrogyria), and facial dysmorphism (including wide forehead with frontal bossing and high anterior hairline, prominent eyes with upslanted palpebral fissures, arched eyebrows, long eyelashes, midface hypoplasia, broad nasal bridge and anteverted nares). Dysphagia, failure to thrive, seizures, musculoskeletal abnormalities (such as scoliosis, vertebral defects, pes planus and joint laxity) are also present in the majority of the patients. Additional clinical features may include dyspraxia, genitourinary, ocular, respiratory, endocrinological and behavioural abnormalities.
别名
RAC3-related syndrome
基本事实
- 遗传方式
- 常染色体显性
- 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 |
|---|---|---|
| RAC3 | Rac family small GTPase 3 | Disease-causing germline mutation(s) (gain of function) in |
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；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）