MMEP综合征
MMEP syndrome
ORPHA:3434疾病
定义 英文原文（暂无中文）
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.
别名
小头-小眼-先天性下肢缺指-凸颌综合征
基本事实
- 发病年龄
- 产前、新生儿期
临床表型 11
极常见 99–80%7
- 智力障碍 HP:0001249
- 下颌前突 HP:0000303
- 上唇正中裂 HP:0000161
- 小头畸形 HP:0000252
- 小眼症 HP:0000568
- 口面裂 HP:0000202
- 脚劈裂 HP:0001839
常见 79–30%3
- 隐睾 HP:0000028
- 三指节拇指 HP:0001199
- 视觉障碍 HP:0000505
偶见 29–5%1
- 室间隔缺损 HP:0001629
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）