Van Maldergem syndrome: a review of the literature

VernacularTitle:Van Maldergem综合征研究进展
Author: Peipei GUO ¹ ; Bo PAN ; Haiyue JIANG
Author Information

1. 中国医学科学院北京协和医学院整形外科医院整形七科　100144
Keywords: Van Maldergem syndrome; Intellectual disability; Craniofacial abnormalities
From: Chinese Journal of Plastic Surgery 2020;36(5):577-581
CountryChina
Language:Chinese
Abstract: Van Maldergem syndrome is caused by the mutation in genes encoding DCHS1 or FAT4, the members of protocadherin family. The disorder is a rare autosomal recessively inherited disease characterized by growth retardation, intellectual disability, craniofacial malformations and bone dysplasia. Its diagnosis mainly depends on clinical features and imaging findings. At present, only a few patients with Van Maldergem syndrome have been reported and the knowledge of this disease is still insufficient. This review summarizes the clinical manifestations, diagnosis, differential diagnosis, molecular genetical research and treatment about the Van Maldergem syndrome, which is significance for the comprehensive understanding of this disease.