Ankyloblepharon-外胚层缺陷-唇/腭裂
基因病名称(英)
Ankyloblepharon-ectodermal defects-cleft lip/palate
基因病名称
Ankyloblepharon-外胚层缺陷-唇/腭裂
关键字(英)
Ectodermal dysplasia
别名(英)
AEC syndrome,Ankyloblepharon-ectodermal defect-cleft lip/palate,Hay-Wells syndrome
别名
AEC 综合征、强睑-外胚层缺损-唇/腭裂、Hay-Wells 综合征
统计
reviewed:1; annotated:0
交叉引用
106260,C0406709,D004476
描述(英)
An autosomal dominant condition characterized by congenital ectodermal dysplasia with coarse, wiry, sparse hair, dystrophic nails, slight hypohidrosis, scalp infections, ankyloblepharon filiform adnatum, maxillary hypoplasia, hypodontia and cleft lip/palate.
描述
一种常染色体显性遗传疾病，其特征是先天性外胚层发育不良，头发粗糙、丝状、稀疏、指甲营养不良、轻度少汗、头皮感染、丝状强直睑板炎、上颌发育不全、牙齿发育不全和唇/腭裂。