Urea Cycle disorders Background In humans, protein rich foods are broken down to make energy for our bodies. After the energy is used up, waste substances like nitrogen are created. In the body,...
Peters Anomaly/Peters Plus syndrome Also known as: Anterior Chamber Cleavage syndrome; Peters Anomaly; Peters Plus syndrome Overview In Peters anomaly, the central part of the cornea (the transparent window of the eye) is hazy...
Purine and Pyrimidine Metabolic diseases Background Purines are the source of our energy, adenosine triphosphate (ATP), and with pyrimidines are the building blocks of our DNA. Their production, recycling and breakdown involves a number of...
Rubinstein-Taybi syndrome Also known as: Broad Thumb-great Toe syndrome Background Rubinstein-Taybi syndrome (RTS) is a rare genetic condition, characterised by distinctive facial and physical differences. The most striking physical feature is broad,...
Alexander disease Also known as: Alexander Leukodystrophy; AxD Background Alexander disease (AxD) is an extremely rare genetic disease belonging to a group of conditions called leukodystrophies. It involves degeneration of the brain’swhite...
Alkaptonuria Background Alkaptonuria (AKU) is a rare metabolic disorder, which was first described in 1902 by Sir Archibald Garrod. The three major features of the condition are arthritis, bluish-black pigmentation in...
Cytomegalovirus Background Cytomegalovirus (the large cell virus) is very common and about 50 per cent of the population of Britain have been infected with it at some time. Frequently the infection...
Fetal Anti-convulsant syndrome Background Babies exposed to anti-convulsant medication (also known as anti-epileptic drugs, or AEDs) taken by the mother during pregnancy have a higher risk of suffering some birth defects. The risk...
Focal Dermal Hypoplasia Also known as: Goltz-Gorlin syndrome; Goltz syndrome Overview Focal dermal hypoplasia (FDH) is a genetic condition affecting the skin, skeleton, eyes, teeth, cardiovascular, urinary, gastrointestinal and neurological systems. It occurs...
Jacobsen syndrome Also known as: 11q Deletion syndrome Background Jacobsen syndrome was first described in 1973 by a Danish geneticist, Dr Petrea Jacobsen. It is a rare chromosomal condition which affects about...
Niemann-Pick disease Background Niemann-Pick disease is an inherited metabolic condition which affects the body’s ability to breakdown, transport, and use fats and cholesterol (lipid metabolism). In people with this condition, abnormal lipid...
Dubowitz syndrome Background The features associated with Dubowitz syndrome include microcephaly, delayed development, short stature, mild learning difficulties (see entry Learning Disability) with behaviour problems and eczema. Individuals with Dubowitz syndrome may...
Triple-X syndrome Triple-X syndrome is a chromosomal condition which occurs only in females. A chromosome is a rod-like structure present in the nucleus of all cells in the body, with the exception...
Usher syndrome Background Usher syndrome is a genetic condition that causes sensory neural hearing loss and retinosis pigmentosa (RP). Sensory neural hearing loss occurs because the sensitive hair cells inside the ear...
Worster-Drought syndrome Also known as: Congenital Suprabulbar Paresis Worster-Drought syndrome is a form of cerebral palsy. The main problems occur with the mouth, tongue and swallowing (bulbar) muscles being affected. There are...
Phenylketonuria Background Phenylketonuria (PKU) is an inherited metabolic condition where there is a defect in phenylalanine hydroxylase. This enzyme normally converts phenylalanine, an essential amino acid in dietary protein, in the...
Optic Nerve Hypoplasia Also known as: Optic Nerve Head Hypoplasia Optic nerve hypoplasia (ONH) is a congenital condition (present at birth) in which there is underdevelopment of the optic nerve. ONH can be...