congenital hemidysplasia with ichthyosiform erythroderma & limb defects (CHILD syndrome)

Genetics

• X-linked dominant
• defects in NSDHL are the cause of CHILD syndrome

Clinical manifestations

• male-lethal disease
• inflammatory nevus with striking lateralization & strict midline demarcation
• ipsilateral hypoplasia of the body

More general terms

• epidermal nevus syndrome
• lipid metabolism, inborn error; lipid storage disease; lipidosis

Database

• OMIM: https://mirror.omim.org/entry/308050