Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
ORPHA:659873疾病暂无中文名
定义 英文原文（暂无中文）
A rare multiple congenital anomalies/dysmorphic syndrome characterized by progeroid appearance (with triangular face, prominent eyes, crooked nose, septum deviation, micrognathia, dental crowding, supernumenary teeth and delayed dentition), microcephaly, skeletal features including Wormian bones and hypoplastic clavicles, generalized lipoathrophy, thin skin, prominent veins and intention tremor. Additional clinical features may include developmental delay, short stature and low bone density.
别名
LEMD2-associated nuclear envelopathy with early progeroid appearance、Marbach-Rustad progeroid syndrome
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| LEMD2 | LEM domain nuclear envelope protein 2 | Disease-causing germline mutation(s) 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）