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女性Coffin-Lowry综合征携带者症候

Symptomatic form of Coffin-Lowry syndrome in female carriers

ORPHA:276630疾病

定义 英文原文（暂无中文）

A rare X-linked syndromic intellectual disability which in symptomatic, female carriers is characterized by a highly variable phenotype including facial dysmorphisms (prominent forehead, hypertelorism, down-slanting palpebral fissures, epicanthic folds, thick lips with everted lower vermilion, thick nasal alae, and septum), short hands with tapering fingers, short stature and skeletal findings (progressive kyphoscoliosis). Intellectual disability is mild to moderate, but intellect can also be normal. A high rate of psychiatric disorders has also been reported.

基本事实

遗传方式
常染色体显性、不适用
发病年龄
产前、婴儿期、新生儿期

相关基因 1

基因名称关联类型
RPS6KA3ribosomal protein S6 kinase A3Disease-causing germline mutation(s) in

临床表型 21

极常见 99–80%2

  • 巨手 HP:0001176
  • 锥形指 HP:0001182

偶见 29–5%19

  • 心血管系统形态异常 HP:0030680
  • 无牙畸形 HP:0000674
  • 双相情感障碍 HP:0007302
  • 抑郁 HP:0000716
  • 下斜睑裂 HP:0000494
  • 下唇唇红外翻 HP:0000232
  • 前额突出 HP:0002007
  • 眼距过宽 HP:0000316
  • 肌张力减退 HP:0001252
  • 脊柱后凸畸形（驼背） HP:0002808
  • 肥胖 HP:0001513
  • 少牙畸形 HP:0000677
  • 鸡胸 HP:0000768
  • 漏斗胸 HP:0000767
  • 精神病 HP:0000709
  • 脊柱侧弯 HP:0002650
  • 癫痫发作 HP:0001250
  • 身材矮小 HP:0004322
  • 宽鼻 HP:0000445

外部标识与链接

OrphanetOMIM:300844MONDO:0017193ICD-10 Q87.0ClinicalTrials.gov 检索

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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）