英文名称

Ablepharon 大口症的定义

详细内容

Ablepharon macrostomia: a rare genetic disorder characterized by abnormal appearance of the face, skull, fingers, skin, and genitals. Underdeveloped or absent eyelids (ablepharon) along with a fish-shaped mouth (macrostomia) are key features of the condition. The nipples and abdominal wall may also be malformed. Children with the disorder may experience delayed language development, learning difficulties, and intellectual disabilities.