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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.

Factor V deficiency

Factor V deficiency (also occasionally known as Owren’s disease or parahaemophilia) is a clotting disorder. A specific protein is missing from the blood so that injured blood vessels cannot heal in the usual way. This information sheet from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of Factor V deficiency and where to get help. 

Factor VII deficiency

Factor VII deficiency (also known as Alexander’s disease) is a type of clotting disorder. A specific protein is missing from the blood so that injured blood vessels cannot heal in the usual way. This information sheet from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of Factor VII deficiency and where to get help.

Factor X deficiency

Factor X (previously known as the Stuart-Prower factor) deficiency is a type of clotting disorder. A specific protein is missing from the blood so that injured blood vessels cannot heal in the usual way. This information sheet from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of Factor X deficiency and where to get help.

Factor XI deficiency

Factor XI deficiency (also known as Haemophilia C, plasma thromboplastin antecedent deficiency or Rosenthal syndrome) is a clotting disorder. A specific protein is missing from the blood so that injured blood vessels cannot heal in the usual way. This information sheet from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of Factor XI deficiency and where to get help.

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