◆史密斯-马吉利氏综合征(Smith-Magenis syndrome, SMS)是一种以特殊面容、生长发育迟缓、认知障碍、行为异常、睡眠障碍和骨骼畸形为特点的先天性发育障碍性疾病。 ◆该综合征在1982年由Smith和Magenis首次报道,故命名为Smith-Magenis综合征。 ◆人群患病率约...
Smith–Magenis Syndrome (SMS)是一种罕见遗传性疾病,由染色体17特定区域的低拷贝区(low copy repeat)出现变异所致。疾病常累及包括大脑在内的多个系统,患儿通常对疼痛不敏感,典型的临床表现为智力障碍、方脸畸形、睡眠障碍和自残行为。除颅面部骨骼,全身其他部分的骨骼系统也会有异常表现,包括脊柱畸形、短指畸形、唇...
【科普】罕见病科普系列:史密斯-马吉利氏症候群 史密斯-马吉利氏症候群(Smith-Magenis Syndrome, 简称SMS)为一常造成特殊外观、发展迟缓、认知障碍及行为异常的疾病,并常发生轻至中度的智能障碍。多数个案(约90%)是由于第17对染色体11.2的位置(17p11.2...
Smith‐Magenis syndromeSynonyms SMS; del(17)p11.2; del(17)(p11.2p11.2); RAI1 mutation Definition and Characteristics Smith-Magenis syndrome is a complex neurobehavioral disorder that includes mild to moderate mental retardation, sleep disturbance due to inverted circadian rhythm of melatonin, ...
Smith-Magenis综合征(Smith-Magenis syndrome,SMS)(OMIM:182290)是一种复杂的疾病,其特征是智力障碍、睡眠障碍、颅面和骨骼异常、行为异常,以及言语和运动发育迟缓[1]。该疾病的遗传方式为常染色体显性遗传,RAI1基因(OMIM:607642)被认为是致病的关键基因,约90%的患者可检测到包含RAI1基因的缺失,少数患者可检测到该...
Smith-Magenis Syndrome (SMS) is a rare genetic condition characterized by intellectual disability, disrupted sleep patterns, facial abnormalities, and behavioral problems such as temper tantrums, aggression, impulsiveness, anxiety, and self-harm. Due to these symptoms, children with SMS may be ...
Smith–Magenis syndrome (SMS) is a mental retardation syndrome with distinctive behavioral characteristics, dysmorphic features, and congenital anomalies ascribed to an interstitial deletion of chromosome 17p11.2. Severe sleep disturbances and maladaptive daytime behavior have been linked to an abnormal circ...
Smith-Magenis syndrome (SMS) is a complex multiple congenital anomaly and mental retardation syndrome caused by an interstitial deletion of chromosome 17p11.2. References Allanson, J. E., Greenberg, F., & Smith, A. C. (1999). The face of Smith-Magenis syndrome: A subjective and objective...
Smith-Magenis syndrome (SMS; OMIM 182290) is a genomic disorder characterized by multiple congenital anomalies, intellectual disability, behavioral abnormalities, and disordered sleep resulting from an ~3.7 Mb deletion copy number variant (CNV) on chromosome 17p11.2 or from point mutations in the gen...