小头畸形-身材矮小-四肢异常综合征
Microcephaly-short stature-limb abnormalities syndrome
ORPHA:572773疾病亚型
定义 英文原文（暂无中文）
A rare genetic multiple congenital anomalies syndrome characterized by severe microcephaly, intrauterine growth retardation, short stature and variable limb anomalies such as radial ray defects, short limbs, absent/hypoplastic patellae, syndactyly, brachydactyly and hypoplastic carpal or metacarpal bones. Craniofacial dysmorphism is characterized by long and broad nose, microstomia and micrognathia. Intellectual disability is mild when present. Cases with extremely severe phenotype with very short limbs and poor lung development are perinatally lethal.
别名
MISSLA
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 产前
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| DONSON | DNA replication fork stabilization factor DONSON | Disease-causing germline mutation(s) (loss 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
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）