外胚层发育不良-智力障碍-中枢神经系统畸形综合征
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
定义 英文原文（暂无中文）
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 产前、新生儿期
临床表型 39
极常见 99–80%25
- 牙釉质形态异常 HP:0000682
- 免疫系统功能异常 HP:0010978
- 胼胝体发育不全 HP:0001274
- 小脑发育缺陷/发育不全 HP:0007360
- 眉毛发育不全 HP:0100840
- 鼻梁塌陷 HP:0005280
- 下斜睑裂 HP:0000494
- 干性皮肤 HP:0000958
- 婴儿期喂养困难 HP:0008872
- 绒毛 HP:0002213
- 前额突出 HP:0002007
- 步态异常 HP:0001288
- 脑积水 HP:0000238
- 眼距过宽 HP:0000316
- 少汗症 HP:0000966
- 阴茎发育不良 HP:0008736
- 颧骨发育不良 HP:0010669
- 重度智力障碍 HP:0010864
- 低位耳 HP:0000369
- 巨头畸形 HP:0000256
- 小牙畸形 HP:0000691
- 下颌后缩 HP:0000278
- 短鼻 HP:0003196
- 皮肤变薄 HP:0000963
- 巨脑室 HP:0002119
偶见 29–5%14
- 眼睑形态异常 HP:0000492
- 腓骨形态异常 HP:0002991
- 趾甲发育缺陷/不全 HP:0010624
- 腭裂 HP:0000175
- 隐睾 HP:0000028
- 眼睛深陷 HP:0000490
- 内眦赘皮 HP:0000286
- 甲状腺功能减退症 HP:0000821
- 肌张力减退 HP:0001252
- 腹股沟疝 HP:0000023
- 漏斗胸 HP:0000767
- 羊水过多 HP:0001561
- 木屐足 HP:0001852
- 多乳头 HP:0002558
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）