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Mitochondrial cytopathy
BBC — Explanation about the condition mitochondrial cytopathy Mitochondrial cytopathy There are many different ways that problems with the building blocks of cells can have an effect on the body. The mitochondria are energy-producing structures found ...More…
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DiGeorge syndrome
BBC — DiGeorge syndrome is an inherited condition where several different genes are lost. This can result in health problems of varying degrees. Di George syndrome is an inherited condition that lies at the more severe end of a spectrum of syndromes ...More…
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Reye's syndrome
BBC — This rare condition mainly affects children under five and can have serious consequences. Reye's syndrome is a rare but potentially fatal illness that affects the brain and liver. Reye's syndrome usually occurs in a previously health child. There ...More…
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Kabuki syndrome
BBC — An unusual facial appearance is common in people with the syndrome. Kabuki syndrome is a rare condition that produces characteristic physical features, developmental abnormalities and learning difficulties. It is named after a Japanese ...More…
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Klinefelter's syndrome
BBC — Tall stature is a typical feature of this genetic condition affecting men. Klinefelter's syndrome is a chromosomal abnormality that affects males who carry an extra one or more X chromosomes. (Females normally have XX chromosomes and males ...More…
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Mucopolysaccharide diseases
BBC — An enzyme deficiency leads to a build up of molecules in connective tissues. MPS, also known as lysosomal storage diseases, are rare, life-threatening, progressive metabolic conditions each caused by a shortage of a particular enzyme. The enzyme ...More…
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Kawasaki disease
BBC — Kawasaki disease is an uncommon condition that was first observed in Japan in the 1960s. It's also known as mucocutaneous lymph node syndrome. Kawasaki disease causes a prolonged fever that's associated with damage to the heart and blood vessels. ...More…
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Fabry disease
BBC — This rare genetic condition affects the body's ability to break down certain fats (lipids), leading to symptoms including burning sensations in the hands and feet, skin lesions and heart problems. Fabry disease is a type of lipid storage disease ...More…
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Pseudoxanthoma elasticum
BBC — PXE is a rare condition that many doctors don't know much about, even though it was first described more than 100 years ago. PXE is an inherited disorder. Recently the gene responsible was discovered on the short arm of chromosome 16. It's called ...More…
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Spinal muscular atrophy
BBC — The facts about spinal muscular atrophy and where to go for support Leads to progressive weakness and wasting of skeletal muscles. SMA is a genetic disorder that affects nerve cells so that muscles can't be used and become wasted, or ...More…
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Huntington's disease
BBC — Huntington's disease is a hereditary disorder that damages the nerve cells of certain areas of the brain. Huntington's disease (also referred to in more formal medical research as Huntington Disease) is an hereditary neurological disorder of the . ...More…
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Creutzfeldt-Jakob disease
BBC — CJD is a rare disease that causes degeneration of nervous tissues, for example in the brain and spinal cord. CJD is a prion disease. Prions are infectious disease-causing agents that consist of a modified protein (unlike bacteria, for example, ...More…