Cardiofaciocutaneous syndrome Also known as: CFC syndrome Background Cardiofaciocutaneous syndrome (CFC) is a rare congenital (present at birth) condition which consists of characteristic facial features and learning disability. About 200 cases of...
Cardiomyopathies in Children Also known as: Arrhythmogenic Right Ventricular Cardiomyopath; Dilated Cardiomyopathy; Hypertrophic Cardiomyopathy; Restrictive Cardiomyopathy Background Cardiomyopathy is a weakening of the heart muscle or a change in heart muscle structure. It...
Coffin-Lowry syndrome Background Coffin-Lowry syndrome (CLS) is a rare inherited disorder that is characterised by craniofacial and skeletal abnormalities, short stature and learning disability. It was described separately by Dr GS Coffin...
Congenital Bilateral Perisylvian syndrome Background The term congenital bilateral perisylvian syndrome (CBPS) describes a structural malformation of the brain. The underlying abnormality is known as ‘polymicrogyria’, which is a malformation of the cerebral cortex...
Congenital Muscular Dystrophy Background The congenital muscular dystrophies (CMDs) are a group of inherited muscle disorders that typically become apparent at birth or in early infancy and are characterised by floppiness, weak muscles...
Congenital Myotonic Dystrophy Background Congenital myotonic dystrophy is a serious form of myotonic dystrophy type 1 (DM1). DM1 usually affects adults, but can affect individuals of all ages and both sexes. Congenital means...
Dancing Eye Syndrome Also known as: Kinsbourne syndrome; Myoclonic Encephalopathy; Opsoclonus Myoclonus syndrome; Opsoclonus-myoclonus-ataxia syndrome Dancing eye syndrome (DES) or Opsoclonus myoclonus syndrome (OMS) is a very rare neurological condition which usually develops...
Deafblindness Background Deafblindness, sometimes known as dual sensory impairment or multi-sensory impairment, is a combination of sight and hearing difficulties (see entry Deafness). A very small number of people with deafblindness...
Diamond Blackfan Anaemia syndrome Also known as: Congenital Red Cell Aplasia; Diamond Blackfan Anemia Background Diamond Blackfan anaemia (DBA) is a rare disorder. It is usually identified in the first few months of life...
Duchenne Muscular Dystrophy Background Duchenne muscular dystrophy (DMD) is a muscle wasting condition, which gets worse over time. Muscle weakness occurs because of a genetic defect that prevents dystrophin, a protein in muscle,...
Galactosaemia Background Galactosaemia is a rare genetic disorder that can cause a severe life-threatening illness in babies fed with breast milk or standard formula milks. In addition some long-term problems occur...
Hirschsprung’s disease Also known as: Aganglionosis; Hirschsprung disease Background Hirschsprung’s disease (HD) affects the nerves of the large intestine (colon). The main function of the colon is to absorb water and salt...
Hypothalamic Hamartoma Overview Hypothalamic hamartoma (HH) describes a benign brain tumour located close to or within the hypothalamus. This part of the brain produces the hormones that control body processes such as...
Lesch Nyhan syndrome Also known as: HPRT Deficiency; Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency Background Lesch Nyhan syndrome is a very rare genetic condition usually occurring in boys. It is caused by virtually complete...
Narcolepsy Background Narcolepsy is a neurological condition that occurs in about 5 out of 10,000 people. It is caused by the brain’s inability to regulate sleep-wake cycles normally. Affected individuals have...
Osteopetrosis Background Osteopetrosis is a general name for a group of rare genetic diseases which are all characterised by increased bone density. These result from problems in the formation or function...
Pelizaeus-Merzbacher disease Also known as: Cockayne-Pelizaeus-Merzbacher disease Background Pelizaeus-Merzbacher disease (PMD) is a neurological disorder and involves the deficiency and loss of myelin (the white matter of the brain). Children with PMD...
Pemphigus Vulgaris Background Pemphigus vulgaris (PV) is a condition which causes blistering of the outer layer of the skin (epidermis) and mucosal membranes, including the nose and throat. It is a very...