小睑裂综合征是一种少见的常染色体显性遗传病。临床表现为睑裂狭小，上睑下垂，反向内眦赘皮，内眦远距。俗称眼睑四联征。并以女性不孕将本病分为两型。近年来从染色体基因水平对本病的研究逐渐深入。陆续有报告本病的染色体异常特征，基本上均定位于第３号染色体长臂，本文就其遗传学发展现况，临床特征及手术治疗等方面作一综述。 Palpebral fissure syndrome is a rare autosomal dominant genetic disease. Clinical manifestations of palpebral fissure narrow, ptosis, epicanthus epidermis, infantile 眦 distance. Commonly known as eyelid quadruple sign. And the female infertility will be divided into two types of the disease. In recent years, from the chromosomal genetic level of the disease gradually deepened. One after another have reported the chromosomal abnormalities of the disease, are basically located in the long arm of chromosome 3, this article on the development of genetics, clinical features and surgical treatment and so on are reviewed.