Snyder-Robinson syndrome (OMIM #309583) is a rare X-linked condition, caused by mutation in the SMS gene (MIM *300105), characterized by a wide spectrum of clinical signs including developmental delay, epilepsy, asthenic habitus, dysmorphism, osteopenia, and renal or genital anomalies.

Here we describe two maternal half-brothers who both presented with severe neurodevelopmental delay, seizures, hearing loss, facial dysmorphism, renal and ophthalmologic anomalies, failure to thrive and premature death. A novel p.(Gly203Asp) variant was found at the hemizygous state in the two boys, and an elevated Spermidine/Spermine ratio confirmed the diagnosis of Snyder-Robinson syndrome. One of the brothers presented with gastrointestinal symptoms, with jejunal stenosis, enteral feeding intolerance, failure to thrive due to a dysfunctional gastrointestinal system, cholestasis and exocrine pancreatic insufficiency. Although more studies will be needed to understand its mechanisms, this observation lends further support to the possibility of severe digestive involvement in Snyder Robinson syndrome.

Snyder-Robinson综合征（OMIM＃309583）是一种罕见的X链接疾病，由SMS基因（MIM * 300105）突变引起，其特征是具有广泛的临床体征，包括发育迟缓，癫痫，虚弱的惯性，畸形，骨质减少，以及肾脏或生殖器异常。

在这里，我们描述了两个同母异父的兄弟姐妹，他们都表现出严重的神经发育延迟，癫痫发作，听力下降，面部畸形，肾脏和眼科异常、,壮失败和过早死亡。在两个男孩的半合子状态下发现了一个新的p。（Gly203Asp）变异体，亚精胺/精胺比的升高证实了Snyder-Robinson综合征的诊断。其中一个兄弟表现出胃肠道症状，空肠狭窄，肠内喂养不耐受，由于胃肠道系统功能异常，胆汁淤积和外分泌性胰腺功能不全而不能failure壮成长。尽管需要更多的研究来了解其机制，但该观察结果进一步支持了严重消化系统参与Snyder Robinson综合征的可能性。