Shwachman-Diamond syndrome (SDS) is a rare condition treated at Great Ormond Street Hospital (GOSH) which affects the pancreas, bone marrow and skeleton. Only 200 or so people have been diagnosed with this condition worldwide. It affects all races and ethnic groups equally and is more common in males than females but more research is needed to understand why.
Anaemia is a condition where the number of red blood cells or the amount of haemoglobin in red blood cells is less than normal. Sideroblastic anaemia is a disorder where the body produces enough iron but is unable to put it into the haemoglobin.
A skull fracture is when bone in the skull has been broken by an injury or trauma. As the skull is very strong, it takes a lot of force to damage it. This might be from falling from a height, a car accident or a direct blow to the head.
The intestines form early in pregnancy as a long straight tube. Before the tenth week of pregnancy, they develop into the separate organs making up the digestive system. Occasionally, the intestines are not completely connected or blocked (atresia). Sometimes there is a partial blockage (web) inside the intestine.
Steroids are hormonal chemical messengers that are produced naturally in the body by the adrenal glands (which are just above each kidney) and by the reproductive organs. Man-made versions of these hormonal substances are used to treat a wide range of illnesses and medical conditions.
Stevens-Johnson syndrome is a rare condition arising from ‘over-reaction’ of the immune system to a trigger such as a mild infection or a medicine, leading to blistering and peeling of the skin and surfaces of the eyes, mouth and throat. It is named after the two doctors who described it in the early 20th century.
A syndrome is a collection of signs that are often seen together. Sturge-Weber syndrome (SWS) is a condition affecting the skin, brain and eyes. It is named after the doctors who described it in the late 19th century and early 20th century.
A stye (hordoleum) is an inflamed area of the eyelid, either at the base of an eyelash (external hordoleum) or on the inside surface of the eyelid (internal hordoleum). Styes are more common in children than adults.