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congenital hemidysplasia with ichthyosiform erythroderma & limb defects (CHILD syndrome)
Genetics:
1) X-linked dominant
2) defects in NSDHL are the cause of CHILD syndrome
Clinical manifestations:
1) male-lethal disease
2) inflammatory nevus with striking lateralization & strict midline demarcation
3) ipsilateral hypoplasia of the body
General
epidermal nevus syndrome; Feuerstein & Mims syndrome; Solomon's syndrome
lipid metabolism, inborn error; lipid storage disease; lipidosis
Database Correlations
OMIM 308050
References
UniProt :accession Q15738