Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, Missouri.
Department of Neurology, Division of Pediatric Neurology, Washington University School of Medicine, St. Louis, Missouri.
Mo Med. 2024 Jul-Aug;121(4):304-309.
DeSanto-Shinawi (DESSH) syndrome is a rare autosomal dominant condition caused by pathogenic variants in the WAC gene. DESSH syndrome was first identified in 2015 in six patients, but has since been diagnosed in more than 200 individuals worldwide. Patients exhibit a variable degree of developmental delay (DD), intellectual disability (ID), hypotonia, gastrointestinal and eye abnormalities, epilepsy, behavioral difficulties, and recognizable facial features. In order to educate families and address the complex medical needs of the increasing number of patients with DESSH syndrome, we established a new multidisciplinary clinic at Washington University in St. Louis. The first clinic was held in September 2022 and attended by 15 patients and their families. Herein, we report the structure of the clinic and present the main clinical findings of these patients. This pilot experience highlights the utility of a multidisciplinary approach to evaluating individuals with rare genetic diseases and the value of collaborating with family support groups to establish multidisciplinary clinics for these disorders, and provides guidance for future clinic planning.
DeSanto-Shinawi (DESSH) 综合征是一种罕见的常染色体显性遗传疾病，由 WAC 基因的致病性变异引起。DESSH 综合征于 2015 年首次在 6 名患者中被发现，但此后已在全球 200 多名个体中被诊断出。患者表现出不同程度的发育迟缓 (DD)、智力障碍 (ID)、低张力、胃肠道和眼部异常、癫痫、行为困难和可识别的面部特征。为了教育患者家庭并满足越来越多的 DESSH 综合征患者的复杂医疗需求，我们在圣路易斯华盛顿大学成立了一个新的多学科诊所。第一个诊所于 2022 年 9 月举行，有 15 名患者及其家属参加。在此，我们报告了该诊所的结构，并介绍了这些患者的主要临床发现。这一试点经验强调了多学科方法评估罕见遗传疾病患者的效用，以及与家庭支持团体合作建立这些疾病的多学科诊所的价值，并为未来的诊所规划提供了指导。
