智力障碍-白内障-耳廓钙化-肌病综合征
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
定义 英文原文（暂无中文）
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.
别名
Primrose综合征
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 儿童期、婴儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ZBTB20 | zinc finger and BTB domain containing 20 | Disease-causing germline mutation(s) in |
临床表型 33
极常见 99–80%21
- 椎体形态异常 HP:0003312
- 腭形态异常 HP:0000174
- 贫血 HP:0001903
- 骨囊肿 HP:0012062
- 耳软骨钙化 HP:0005103
- 白内障 HP:0000518
- 传导性听力受损 HP:0000405
- 发育倒退 HP:0002376
- 屈曲挛缩 HP:0001371
- 步态异常 HP:0001288
- 髋关节挛缩 HP:0003273
- 脑积水 HP:0000238
- 性腺功能减退症 HP:0000135
- 智力障碍 HP:0001249
- 椎体终板不规则 HP:0003301
- 脊柱后凸畸形（驼背） HP:0002808
- 巨耳畸形 HP:0000400
- 肌病 HP:0003198
- 骨质溶解 HP:0002797
- 椎体后方扇形 HP:0005121
- 脊柱侧弯 HP:0002650
常见 79–30%12
- 无甲症 HP:0001798
- 双侧隐睾 HP:0008689
- 下斜睑裂 HP:0000494
- 男子女性乳房发育 HP:0000771
- 面中部后缩 HP:0011800
- 窄胸 HP:0000774
- 髂骨翼狭窄 HP:0002868
- 漏斗胸 HP:0000767
- 斜头畸形 HP:0001357
- 癫痫发作 HP:0001250
- 身材矮小 HP:0004322
- 连眉 HP:0000664
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）