Saint Louis University School of Medicine, Saint Louis, Missouri.
Washington University School of Medicine, Saint Louis, Missouri.
Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):407-416. doi: 10.1002/ajmg.c.31589. Epub 2017 Oct 31.
CHARGE syndrome (CS) is a complex genetic disorder causing multiple birth defects and sensory deficits (hearing, vision, balance, smell). Genetic counseling in CS must include not only the provision of factual information about CS, its cause, and inheritance, but also information about the developmental implications of CS features, referral to appropriate resources, and assistance with psychosocial adaptation to this information. CS should be considered in patients with any of the major diagnostic features: coloboma, choanal atresia, semicircular canal anomalies, or cranial nerve anomalies. The prime candidates in the differential are 22q11.2 deletion and Kabuki syndromes. Evaluation of features of CS, dysmorphology examination, and genetic testing can usually distinguish between the three conditions. Genetic counseling is important from early on, to help the family understand the process of genetic diagnosis, to interpret information coming from other specialists and to provide support and resources. Parents can easily be overwhelmed with the complexity of issues facing their child at diagnosis and in the future. CS is a substantial burden on a child, with high early mortality, multiple illnesses, hospitalizations and surgeries, and apparent medical fragility throughout life. The medical complexity of CS disrupts family life and contributes to delayed development. Multiple sensory deficits (impaired vision, hearing, and balance) further contribute to delayed motor and language development despite many individuals with CS having normal intelligence. Early referral to specialists in deafblindness and sensory deficits is essential. Resources are available to assist genetic counselors in diagnosis, follow-up, and management of patients with CS.
CHARGE 综合征（CS）是一种复杂的遗传疾病，会导致多种出生缺陷和感觉缺陷（听力、视力、平衡、嗅觉）。CS 的遗传咨询不仅必须包括提供有关 CS 的事实信息，包括其病因和遗传方式，还必须包括有关 CS 特征的发育影响、向适当资源的转介以及对这些信息的心理社会适应的帮助。CS 应考虑到任何主要诊断特征的患者：眼眶裂、鼻后孔闭锁、半规管异常或颅神经异常。鉴别诊断的主要候选者是 22q11.2 缺失和歌舞伎综合征。CS 特征的评估、畸形检查和基因测试通常可以区分这三种情况。遗传咨询从早期开始就很重要，以帮助家庭了解遗传诊断过程，解释来自其他专家的信息，并提供支持和资源。父母很容易被孩子在诊断时和未来面临的复杂问题所压倒。CS 对孩子来说是一个沉重的负担，早期死亡率高，多种疾病，住院和手术，以及整个生命中明显的医疗脆弱性。CS 的医疗复杂性扰乱了家庭生活，并导致发育迟缓。尽管许多 CS 患者智力正常，但多种感觉缺陷（视力、听力和平衡受损）进一步导致运动和语言发育迟缓。早期向聋盲和感觉缺陷专家转介至关重要。有资源可帮助遗传咨询师诊断、随访和管理 CS 患者。
