Advances in diagnosis and treatment of cardio-facio-cutaneous syndrome in children
10.3760/cma.j.issn.1673-4408.2023.11.009
- VernacularTitle:儿童心-面-皮肤综合征诊治研究进展
- Author:
Biyun FENG
1
;
Xin LI
;
Xiumin WANG
Author Information
1. 上海交通大学医学院附属上海儿童医学中心内分泌遗传代谢科 200127
- Keywords:
Cardio-facio-cutaneous syndrome;
RASopathy;
RAS-MAPK signal pathway
- From:
International Journal of Pediatrics
2023;50(11):754-758
- CountryChina
- Language:Chinese
-
Abstract:
Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic syndrome associated with abnormal activation of RAS-mitogen-activated protein kinase(RAS-MAPK)signal transduction pathway.Causative genes are BRAF, MAP2K1, MAP2K2 and KRAS.CFCS is an autosomal dominant disorder characterized by dysmorphic craniofacial features, congenital heart disease, dermatologic abnormalities, gastrointestinal dysfunction, failure to thrive, neurocognitive delay and epilepsy, whose phenotype overlaps with many other RASopathies.Final diagnosis of CFCS can be reached by classical presentation and genetic testing.Early diagnosis helps to evaluate risk of severe complications of specific genotype and improve prognosis of CFCS patients.At present, there is no effective treatment of CFCS although inhibitors of MEK may improve partial phenotype of CFCS animal models.Once diagnosed with CFCS, the patients need multidisciplinary assessment and treatment.
