Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome
定义 英文原文（暂无中文）
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth restriction, microcephaly, short stature, rhizomelic shortening and facial dysmorphism (including prominent forehead, downslanted palpebral fissures, bulbous nasal tip, large or prominent ears and notably severe micrognathia). Developmental delay is commonly reported, intellectual disability may also be present. Additional clinical features may include genitourinary malformations in males, transient liver dysfunction, glycosylation abnormalities, giant cell hepatitis, hepatoblastoma, and cataracts. Severity of the disease varies from mild to very severe which may lead to intrauterine death or stillbirth in some cases.
别名
ARCN1-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 |
|---|---|---|
| ARCN1 | archain 1 coat protein complex I subunit delta | 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；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）