CHARGE聯合畸形

CHARGE聯合畸形是一種同時包括眼器官先天裂開與腦神經缺損、心臟缺損、後鼻孔閉鎖、生殖泌尿道系統異常、生長與發育遲緩及耳朵異常及聽力喪失。

CHARGE syndrome
戴有人工耳蝸的CHARGE聯合畸形患者
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
醫學專科醫學遺傳學
ICD-10Q89.8
ICD-9-CM759.89
OMIM214800
DiseasesDB32233
eMedicine942350
Orphanet138
[编辑此条目的维基数据]

其發生率為1/10000至1/12000,其中大多數是散發性案例。

遺傳方面,其遺傳方式為一體染色體顯性遺傳疾病,不分性別。

參考資料

罕見遺傳疾病一點通页面存档备份,存于互联网档案馆

外部链接