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[*]
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
eMedicineped/367
Orphanet138

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

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