Snyder–Robinson syndrome (SRS) is a rare genetic disorder characterized by intellectual disability and delayed development beginning early in childhood. It was first described in a single family in 1969 as a sex-linked disorder (Snyder & Robinson, 1969) and has since been only identified in less than 100 individuals worldwide. Inherited in an X-linked recessive pattern, SRS has only been identified in males thus far. Snyder–Robinson syndrome primarily affects the nervous system and skeletal tissues and is caused by loss-of-function mutations in the gene encoding spermine synthase (SMS), a polyamine biosynthesis enzyme. Affected males display a collection of clinical features including intellectual disability ranging from mild to profound, speech and vision impairment, osteoporosis, hypotonia, and increasing loss of muscle tissue with age, kyphoscoliosis, seizures, and distinctive facial features including a prominent lower lip and facial asymmetry. Currently, there is no cure or treatment for this debilitating disorder aside from symptom management.

中文翻译：

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重新平衡多胺水平以治疗斯奈德-罗宾逊综合征

斯奈德-罗宾逊综合征 (SRS) 是一种罕见的遗传性疾病，其特征是从儿童早期开始出现智力障碍和发育迟缓。1969 年，该病首次在一个家庭中被描述为一种与性别相关的疾病（Snyder & Robinson，1969），此后仅在全世界不到 100 人中被发现。SRS 以 X 连锁隐性模式遗传，迄今为止仅在男性中发现。斯奈德-罗宾逊综合征主要影响神经系统和骨骼组织，是由编码精胺合酶（SMS）（一种多胺生物合成酶）的基因功能丧失突变引起的。受影响的男性表现出一系列临床特征，包括从轻度到重度的智力障碍、言语和视力障碍、骨质疏松症、张力减退、随着年龄的增长肌肉组织损失增加、脊柱后凸、癫痫发作和独特的面部特征，包括突出的下唇和面部不对称。目前，除了症状管理之外，还没有治愈或治疗这种使人衰弱的疾病的方法。