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.
Primary intestinal lymphangiectasia (PIL) is also called Waldmann's disease. It is a rare disorder that causes you to lose special proteins from your intestine.
Anaemia happens when there is shortage of cells with haemoglobin – a special substance which carries oxygen around the body. Anaemia can also occur if the body does not have enough iron.
Ollier's disease is also called enchondromatosis (say en-kond-dro-ma-to-sis). It is a very rare bone disease which occurs in one in every 100,000 people.
A fibro-adipose vascular anomaly (FAVA) is a complex type of vascular anomaly which may affect the muscle compartments in the arm or leg, usually the calf or forearm area. This information sheet from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of FAVA and where to get help.
This page has been produced jointly between PID UK, Great Ormond Street Hospital (GOSH) and the Great North Children’s Hospital. It describes the adenosine deaminase (ADA)-deficient specific form of severe combined immunodeficiency (SCID) and should be read in conjunction with the general overview leaflet on SCID.
This page is designed to help answer the questions families may have about the condition called autoimmune lymphoproliferative syndrome (ALPS). It has been produced jointly by PID UK and the paediatric immunodeficiency centres at Great Ormond Street Hospital (GOSH) and the Great North Children’s Hospital.
This leaflet is designed to help answer the questions families may have about the immune condition called combined immunodeficiency (CID). It has been produced jointly by PID UK and the paediatric immunodeficiency centres at Great Ormond Street Hospital (GOSH) and the Great North Children’s Hospital.
Haemophilia A (also known as Classic Haemophilia or Factor VIII deficiency) is the most well-known type of clotting disorder. A specific protein is missing from the blood so that injured blood vessels cannot heal in the usual way. This page from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of Haemophilia A and where to get help.
