Aarskog syndrome
Also known as: Aarskog-Scott syndrome Overview Aarskog syndrome is a rare inherited condition characterised by short stature and facial, genital and skeletal anomalies. It is also sometimes associated with late dentition...
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Pseudoxanthoma Elasticum
Background Pseudoxanthoma elasticum (PXE) is a rare inherited disorder of connective tissue mainly affecting the skin and the eye. PXE is known in all ethnic groups, but affects around twice...
Retinitis Pigmentosa
Background Retinitis pigmentosa (RP) is the name given to a group of genetic conditions of the retina, the light-sensitive tissue at the back of the eye. The retina converts light...
Restricted Growth
If your child is affected by a medical condition or disability we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can...
Relapsing Polychondritis
Background Relapsing polychondritis (RP) is a rare episodic or progressive condition caused by inflammation of cartilage or other connective tissue, such as the ears, nose, throat, joints, kidney and heart....
Reflex Sympathetic Dystrophy
Also known as: Complex Regional Pain syndrome; Localised Pain syndrome Background Reflex sympathetic dystrophy (RSD) is a chronic pain condition that is often localised to one area of the body....
Reflex Anoxic Seizures
Also known as: Infantile Vasovagal Syncope; Reflex Asystolic Syncope Background RAS is a particular type of convulsive syncope (transient loss of consciousness) with stiffening and or shaking. It is neither...
Raynaud’s Phenomenon
Background Raynaud’s phenomenon occurs when blood vessels in the extremities have a tendency to narrow in response to cold or emotional stress. It leads to colour changes in the skin...
Rasmussen Encephalitis
Also known as: Rasmussen syndrome Background Rasmussen encephalitis (RE) or Rasmussen syndrome is a rare progressive inflammatory condition of one hemisphere (side) of the brain. The disease stays on one...
Postural tachycardia syndrome
Also known as: PoTS; POTS Background If your child is affected by a medical condition or disability we can help. Call our freephone helpline on 0808 808 3555 to get...
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...
Pulmonary Hypertension of the Newborn
Background Persistent pulmonary hypertension of the newborn (PPHN) is a rare disorder of the lungs which occurs at birth or shortly thereafter. The symptoms include cyanosis (blue cast of the...
Psoriatic Arthritis in Children
Background Juvenile idiopathic arthritis (JIA; see entry Arthritis (Juvenile Idiopathic)) is the term for inflammation in a child’s joints, which will often be swollen, warm and painful, lasting for more...
Psoriasis
Background Psoriasis is a non-infectious inflammatory skin condition affecting approximately two per cent of the UK population. Recently there has been huge progress in understanding the mechanisms involved with psoriasis....
Prune Belly syndrome
Also known as: Eagle-Barrett syndrome Background Prune belly syndrome is an extremely rare condition which only affects boys. It is characterised by three distinctive features: poor development of the abdominal...
Rett syndrome
Background Rett syndrome is a condition that affects the nervous system, causing problems with learning and development. It affects girls almost exclusively. Although the syndrome is present from birth, symptoms...
Proteus syndrome
Background Proteus syndrome is a rare disorder named after the Greek god Proteus, ‘the polymorphous’, who could change shape at will to avoid capture. The name reflects the highly variable...
Primary Immunodeficiencies
Background Primary immunodeficiencies (PID) are the result of defects in the immune system. Many distinct disorders have been discovered, approximately 140 in total, and most have a genetic basis. The...