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Encephalocele

An encephalocele is a rare congenital (present at birth) type of neural tube defect where part of the skull has not formed properly so a portion of brain tissue and associated structures are outside the skull. The protruding sac may be covered with skin or it may be covered with a thin membrane. This information sheet from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of encephalocele and where to get help. 

Epidermolysis bullosa simplex: generalised severe type 

Epidermolysis bullosa (EB) is the term used to describe a number of rare genetic conditions which cause the skin to blister and shear in response to minimal friction and trauma. There are four broad categories of EB: EB simplex, junctional EB, dystrophic EB and Kindler syndrome. Within each of these categories there are several subtypes. One of the subtypes of EB simplex is the generalised severe type (previously known as Dowling Meara type).

Exomphalos

Exomphalos is a type of abdominal wall defect. It occurs when a child’s abdomen does not develop fully while in the womb. This page explains about exomphalos or omphalocele, what causes it and what to expect when a child comes to Great Ormond Street Hospital (GOSH) for treatment.