Glossary

Also known as Caudal regression syndrome, sacral agenesis is a congenital disorder which affects the development of the lower spine.

The condition affects one in 25,000 people.

A rare metabolic disorder which affects 1 in 70,000 children which causes a problem with one of the chemical reactions in the body.

The condition is a form of dementia found in children who often do not reach adulthood.

Symptoms include speech and other developmental delays, ear infections or sinus infections, large head size, respiratory infections, ongoing diarrhoea, headaches, sleep problems and behaviour issues that can look like those caused by autism.

A rare condition that causes small patches of red and swollen tissue, called granulomas, form in the body organs, usually the lungs and skin.

Symptoms include tender bumps on the skin, shortness of breath and a persistent cough. In most cases these symptoms improve without treatment over a course of a few months or years and are normally not too severe.

But in some cases the symptoms become worse and severely affected, this is known as chronic sarcoidosis.

There is no cure for sarcoidosis, although symptoms can usually be controlled with medication.

A rare mental illness which limits the patient’s intelligential abilities apart from one specialised area which could show tremendous abilities in mathematics, art or musical achievements.

Despite these rare talents the patient may need to be told when to carry out simple daily routines such as taking a shower and changing their clothes.

A developmental disorder of the spine which causes an abnormal growth which usually develops in the upper back, but can also appear in the rib cage and the pelvis…Also known as the lumbar vertebrae.

A rare developmental birth condition which caused by abnormal cells which can delay speech and language skills as well as problems with brain-spiral cord communication.

Those with schizencephaly are usually paralysed on one side of the body although may have average intelligence.

They may have an abnormally sized head, poor muscle tone and cognitive delay.

People diagnosed with schizoaffective disorder usually have psychotic symptoms similar to schizophrenia and bipolar disorder symptoms such as mood swings.

Patients with schizoaffective disorder can find it difficult to live an independent lifestyle.

A long-term mental health condition which can cause hallucinations, behavioural problems, irregular thoughts and delusions.

Despite the cause of schizophrenia being unknown experts believe the illness is caused by environmental and genetic factors.

Around 1 in 100 people will experience forms of schizophrenia in their lifetime, the condition is usually diagnosed between the ages of 15 and 35.

A very rare condition which belongs to group of genetic disorders known as the distal arthrogryposes. These disorders can include stiffness and impaired mobility of joints of the lower arms and legs (distal extremities) including the knees, elbows, wrists, and/or ankles.

Only one in 350 million children are born with the condition.

A rare genetic disorder characterised by abnormalities of the skeletal muscles, including muscle weakness and stiffness (myotonic myopathy); abnormal bone development (bone dysplasia); permanent bending or extension of certain joints in a fixed position (joint contractures); and/or growth delays resulting in abnormally short stature (dwarfism).

The pain that radiates along the sciatic nerve which travels from the lower back through the hips and buttocks branching off to each leg.

In normal circumstances sciatica only affects one side of the body.

Sciatica is where the sciatic nerve, running from the lower back to the feet, is irritated or compressed. It usually gets better in 4 to 6 weeks but can last longer.

A rare condition which leads to thickened areas of the skin and can also affect the internal organs and blood vessels. 

There are two types of scleroderma.

Localised scleroderma - which just affects the skin

Systemic sclerosis - may affect blood circulation and the internal organs as well as the skin

Curvature of the spine which twists the vertebra to the side.

The condition can affect anybody although there are usually early signs between the ages of 10 and 15.

A sideways curvature of the spine which is usually detected in adolescents.

When the condition is diagnosed in people with disabilities such as cerebral palsy and muscular dystrophy the cause of scoliosis is unknown.

In most cases the condition is mild, but the spine curvature can deteriorate over time.