Carpenter syndrome, also called acrocephalo-polysyndactyly type Ⅱ, is an autosomal recessive dominant inherited disease with craniosynostosis, characterized by a combination of craniosynostosis, polysyndactyly, obesity, and other congenital malformations. CS will result in some complications including mental retardation, intracranial hypertension. To date, the majority of CS is caused by mutations in the RAB23 gene, which encodes a small GTPase of the Rab superfamily. Rab acts as an essential negative regulator of the Sonic hedgehog signaling pathway. The mutation of RAB23 in CS result in the structure and function of the protein, which probably through perturbation of signaling by hedgehog. However, the pathogenesis is not exactly clear. Some of the CS is caused by mutations in multiple EGF-like-domains (MEGF8).%Carpenter综合征,又名Ⅱ型尖头多指(趾)并指(趾)畸形,是一种导致颅缝早闭的常染色体隐性遗传病,临床表现主要以颅缝早闭、多指(趾)、并指(趾)、肥胖等先天畸形为主,可引起智力发育迟缓、颅内高压等一系列并发症.目前发现其基因突变主要定位于RAB23,编码的蛋白是Rab蛋白家族的一员:小GTP结合蛋白.Rab蛋白是HH信号通路的负性调节因子,突变后的Rab蛋白结构和功能产生变化,很可能通过扰乱HH信号通路而导致Carpenter综合征,但具体发病机制尚未明确;也有少数Carpenter综合征患者是因为MEGF8基因的突变.
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