CK syndrome is a rare disorder caused by mutation in the NSDHL (NAD(P) dependent steroid dehydrogenase-like) gene at the Xq28 locus. It has expanded the spectrum of disorders associated with X-linked mental retardation and defects in sterol metabolism. There are only a few reports defining the phenotypic spectrum of this rare disorder. We describe a new patient from the Indian subcontinent who presented with dysmorphism, global developmental delay and epilepsy. We also add left ventricular concentric hypertrophy and sensory neuropathy, which have not been reported previously. Our report suggests that CK syndrome may be unrecognized due to limited clinical knowledge and restricted availability of genetic testing. The expansion of the phenotype may also lead to a better understanding of biochemical anomalies and management approaches.

中文翻译：

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CK 综合征：小男孩发育迟缓的罕见原因。

CK 综合征是一种罕见疾病，由 Xq28 位点 NSDHL（NAD(P) 依赖性类固醇脱氢酶样）基因突变引起。它扩大了与 X 连锁智力低下和甾醇代谢缺陷相关的疾病范围。只有少数报告定义了这种罕见疾病的表型谱。我们描述了一位来自印度次大陆的新患者，该患者患有畸形、整体发育迟缓和癫痫。我们还添加了左心室向心肥厚和感觉神经病变，这在以前没有报道过。我们的报告表明，由于临床知识有限和基因检测的可用性有限，CK 综合征可能未被识别。表型的扩展也可能导致对生化异常和管理方法的更好理解。