智力障碍-肌病-身材矮小-内分泌缺陷综合征
Intellectual disability-myopathy-short stature-endocrine defect syndrome
ORPHA:3068疾病
定义 英文原文（暂无中文）
Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.
别名
Chudley-Rozdilsky综合征
基本事实
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 30
极常见 99–80%19
- 肌纤维形态异常 HP:0004303
- 腭形态异常 HP:0000174
- 第五指屈指畸形 HP:0004209
- 颅面骨骨质增生 HP:0004493
- 骨成熟延迟 HP:0002750
- 不成比例的高身材 HP:0001519
- 下斜睑裂 HP:0000494
- 面部神经麻痹 HP:0010628
- 脊柱前凸过度 HP:0003307
- 眼距过宽 HP:0000316
- 低促性腺激素性性腺功能减退症 HP:0000044
- 阴茎发育不良 HP:0008736
- 重度智力障碍 HP:0010864
- 近视 HP:0000545
- 眼肌瘫痪 HP:0000597
- 上睑下垂 HP:0000508
- 身材矮小 HP:0004322
- 骨骼肌萎缩 HP:0003202
- 体毛稀疏 HP:0002231
常见 79–30%5
- 髋骨形态异常 HP:0003272
- 关节活动受限 HP:0001376
- 小头畸形 HP:0000252
- 鼻梁突出 HP:0000426
- 招风耳 HP:0000411
偶见 29–5%6
- 心血管系统形态异常 HP:0030680
- 耳廓形态异常 HP:0000377
- 肋骨形态异常 HP:0000772
- 面部不对称 HP:0000324
- 鸡胸 HP:0000768
- 气管食管瘘 HP:0002575
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）