Glossary

Facial dysplasia is an abnormal development which affects the size and shape of the face and the organisation of adult cells.

A condition which affects numerous parts of the body which can cause bone marrow failure, organ defects, physical abnormalities and increase the risk of developing various types of cancers.

Ferredoxin Reductase, also known as FXDR, is a Protein Coding gene. Conditions associated with FDXR include Auditory Neuropathy [a rare type of hearing loss] Optic Atrophy [which affects the optic nerve] and Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome

If a pregnant mother drinks too much she can carry the risk of causing mental and physical damage to her unborn child because the alcohol may cause damage to the baby’s brain cells, spinal cord and other parts of the body whilst developing in the womb.

A long-term illness which can cause pain all over the body.

Those living with the condition can experience difficulty sleeping, headaches, irritable bowel syndrome, fatigue, memory and concentration problems and increased sensitively to pain.

Despite the cause of the illness being unknown medical studies show the condition could be related to abnormal levels of specific chemicals found in the brain.

Those going through stressful events such as undergoing an operation, break-up, giving birth or grief could be prone to the illness.

Babies with fibular hemimelia are born with a short or missing bones of the lower leg known as the fibula.

The condition usually only affects one leg, but in some cases it can affect both and can lead to surgery or amputation in severe circumstances.

FND, Functional neurological disorder, is a condition which affects the functioning of the nervous system which sends messages from the brain to other parts of the body.

Symptoms include hearing loss, difficulty concentrating and/or swallowing, impaired movement, fatigue, lack of senses, lack of responsiveness and lack of balance.

FND does not affect the structure of the brain, just the way it operates.

Food Intolerance shouldn’t be confused as food allergies. The condition does not attack the immune system (like an allergy) but can cause digestive problems after certain food, such as dairy products and grains which include gluten are consumed.

A condition which impairs development and structure to the brain causing abnormalities.

Babies born with FOXG1 are small at birth with their heads growing slower than normal which leads to a small head size in their first few years.

Those with the condition may suffer seizures, lack of speech and the inability to control their body movements.

The disability is caused by a mutation of the FOXG1 gene, hence the name.

A condition which usually affects the face, hands and feet. People with Freeman-Sheldon Syndrome have a small mouth with pursed lips which is why the disability was once known as Whistling Face syndrome.

Freeman-Sheldon Syndrome is caused by a change to the MTH3 gene which can, in some cases, be passed on by the parent to the child.

An inherited condition which affects the nervous system.

People with the condition go on to develop problems with their muscle coordination (ataxia) which deteriorates over a period of time which can lead to the loss of strength in the arms and legs as well as muscle stiffness and speech impediments.

A rare genetic disease which affects walking and a lack of sensation in the arms. Friedreich’s Ataxia also damages parts of the brain, heart (in 75% of people) and the spinal cord.

‘Ataxia’ means lack of order.

Frontotemporal dementia, also known as FTD, is a rare form of dementia. Early symptoms are changes to personality and behaviour as well as difficulties with language.

As the condition progresses  frontotemporal dementia can cause memory loss as well as affecting a person’s emotions, mood and mental capacity.

Frontotemporal dementia is caused by damage to two sets of nerve cells in the brain.

A stiff and painful feeling in your shoulder which can last for months or years.

Frontotemporal  dementia  (FTD) is one of the less common types of dementia. It is sometimes called Pick's disease or frontal lobe dementia. The first noticeable FTD symptoms are changes to personality and behaviour and/or difficulties with language.