雷特综合征(Rett Syndrome,RS)又称大脑萎缩性高氨血症(Cerebroatrophichyperammonemia)是在1/2～4岁时以迅速出现锥体外系发育倒退与神经功能丧失为特征的遗传性疾患。1966年Rett首次报道,一些学者在世界各地调查结果,RS在儿科的发病率约为1/15,000,仅限于女性发病,男性子胚胎早期即死亡,无种族、国籍、地区与社会阶层之差异。本病的严重性及发生频率均与苯酮尿症(PKU)具有同等重要性。本文就该综合征的症状学与遗传学等方面进行综述。 Rett Syndrome (RS), also known as cerebrovascular atrophic hyperammonemia, is a hereditary disorder characterized by the rapid onset of extrapyramidal and neurological loss at the age of 1 to 2 years. In 1966 Rett first reported that some scholars around the world survey results, the incidence of RS in pediatrics is about 1 / 15,000, limited to women, male embryos early death, no race, nationality, regional and social differences. The severity and frequency of this disease are equally important to phenylketonuria (PKU). This article reviews the symptoms and genetics of the syndrome.