CHARGE联合畸形

CHARGE联合畸形是一种同时包括眼器官先天裂开与脑神经缺损、心脏缺损、后鼻孔闭锁、生殖泌尿道系统异常、生长与发育迟缓及耳朵异常及听力丧失。

CHARGE syndrome
戴有人工耳蜗的CHARGE联合畸形患者
类型症候群immunodeficiency due to absence of thymus[*]syndromic genetic deafness[*]rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism[*]syndromic renal or urinary tract malformation[*]lens shape anomaly[*]multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome[*]syndromic developmental defect of the eye[*]syndrome or malformation associated with head and neck malformations[*]rare syndrome with cardiac malformations[*]syndromic urogenital tract malformation[*]rare abdominal surgical disease[*]rare genetic bone disease[*]疾病
分类和外部资源
医学专科医学遗传学
ICD-10Q89.8
ICD-9-CM759.89
OMIM214800
DiseasesDB32233
eMedicine942350
Orphanet138
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其发生率为1/10000至1/12000,其中大多数是散发性案例。

遗传方面,其遗传方式为一体染色体显性遗传疾病,不分性别。

参考资料

罕见遗传疾病一点通页面存档备份,存于互联网档案馆

外部链接