X连锁骨骼发育不良-智力障碍综合征
X-linked skeletal dysplasia-intellectual disability syndrome
ORPHA:1436疾病
定义 英文原文（暂无中文）
A rare spondylodysplastic dysplasia characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described. There have been no further descriptions in the literature since 1977.
别名
Christian综合征
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 9
极常见 99–80%7
- 骶骨形态异常 HP:0005107
- 短指（趾） HP:0001156
- 颈椎融合 HP:0002949
- 脊柱侧弯 HP:0002650
- 中节指骨短 HP:0005819
- 身材矮小 HP:0004322
- 胸椎半椎体 HP:0008467
常见 79–30%1
- 2型糖尿病 HP:0005978
偶见 29–5%1
- 肛门闭锁 HP:0002023
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）