Hirschsprung′s disease (HSCR) is one of the major causes of chronic incomplete intestinal obstruction in children. HSCR is considered a type of neurocristopathy caused by no colonization of ganglion cells on some parts of the bowel wall due to abnormal termination of the migration of vagal neural cells during embryonic development. This disease can be classified into different types according to the length of the affected intestinal canal. Most HSCR patients present with single deformity, but some HSCR patients are affected by other deformities, which constitutes syndromic HSCR, such as congenital central hypoventilation syndrome, Fryns syndrome, and cartilage-hair hypoplasia syndrome. Most syndromes have abnormal genetic material. An adequate knowledge of syndromic HSCR is of vital importance for accurate diagnosis and prognostic evaluation. This article reviews the clinical manifestations, genetic basis, and genetic modes of different types of syndromic HSCR.
先天性巨结肠是导致儿童慢性不完全肠梗阻的主要原因之一。目前认为，先天性巨结肠是一类神经嵴疾病，是胚胎发育期迷走神经沿肠壁的迁移异常终止导致部分肠壁无神经节细胞定植的一类疾病，根据受累肠管的长短分为不同类型。多数先天性巨结肠为单发畸形，部分先天性巨结肠伴发其他畸形构成先天性巨结肠综合征，如先天性中枢通气不良综合征、Fryns综合征、软骨-毛发发育不良综合征等，多数综合征合并遗传物质异常，充分认识综合征性先天性巨结肠对正确诊断、准确评估预后至关重要。本文对各种先天性巨结肠相关综合征的临床表现、遗传基础及遗传方式等加以综述。