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Abstract：
Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have distinctive craniofacial features, cardiac anomalies, growth and developmental delays, as well as dermatological, orthopedic, ocular, and neurological issues; however, considerable overlap with other RASopathies exists. Medical evaluation requires an understanding of the multifaceted phenotype. Subspecialists may have limited experience in caring for these individuals because of the rarity of CS. Furthermore, the phenotypic presentation may vary with the underlying genotype. These guidelines were developed by an interdisciplinary team of experts in order to encourage timely health care practices and provide medical management guidelines for the primary and specialty care provider, as well as for the families and affected individuals across their lifespan. These guidelines are based on expert opinion and do not represent evidence-based guidelines due to the lack of data for this rare condition.
摘要：
Costello综合征（CS）是由HRAS中激活种系突变引起的RASopathy。由于普遍存在的HRAS基因表达，CS影响多个器官系统并且个体易患癌症。患有CS的人可能有独特的颅面特征，心脏异常,生长和发育迟缓，以及皮肤病学，骨科,眼,和神经问题；然而，与其他放射病存在相当大的重叠。医学评估需要了解多方面的表型。由于CS的稀有性，子专家在照顾这些人方面的经验可能有限。此外，表型呈现可能随潜在基因型而变化.这些指南是由一个跨学科的专家小组制定的，以鼓励及时的医疗保健实践，并为初级和专科护理提供者提供医疗管理指南，以及整个生命周期中的家庭和受影响的个人。这些指南基于专家意见，由于缺乏这种罕见情况的数据，不代表基于证据的指南。
