Advance in research on congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome.
- Author:
Feng JING
1
;
Dan YANG
;
Tao CHEN
;
Lipin LIANG
Author Information
1. Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China. dr_taochen@yahoo.com.
- Publication Type:Journal Article
- MeSH:
Abnormalities, Multiple;
genetics;
Genetic Diseases, X-Linked;
genetics;
Humans;
Limb Deformities, Congenital;
genetics;
Nevus;
genetics;
Syndrome
- From:
Chinese Journal of Medical Genetics
2016;33(6):878-882
- CountryChina
- Language:Chinese
-
Abstract:
Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X-linked dominant and male-lethal multi-system disorder characterized by congenital hemidysplasia, strictly lateralized ichthyosiform nevus and ipsilateral limb defects. CHILD syndrome is caused by mutations of nicotinamide adenine dinucleotide phosphate steroid dehydrogenase-like protein (NSDHL) gene mapped to chromosome Xq28. The gene encodes 3β-hydroxylsterol dehydrogenase, which catalyses a step in the cholesterol biosynthetic pathway. This paper has provided a review for recent progress in research on CHILD syndrome including its clinical aspects, pathology, etiology, pathogenesis, differential diagnosis, and treatment, with a particular emphasis on its treatment..
