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Neurofibromatosis (NF) is a genetic condition. This means it belongs to a group of health conditions that can be passed on in families from one generation to the next through the process of genetic inheritance.
NF is caused by a mutation in one of the genes. About half of the people who have NF have no family history. In other words, it has occurred “out of the blue” with no-one else in the family being affected. This is called a spontaneous gene mutation. The other half of people will have inherited NF from their mother or father.
NF occurs in all races. It affects both men (and boys) and women (and girls) equally. NF varies from one person to another even in the same family. Some people will be mildly affected with very few health problems. Others will have some serious health problems that mean that daily life is difficult and it restricts what they can do. With a condition that varies so much, it is important to learn some basic facts about NF, and to understand when you need to seek help from your doctor. It is important therefore that you are clear about the diagnosis that you have been given.
There are differences in the two main groups: Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2). NF1 and NF2 are separate and different conditions. The health checks and health care needed reflect those differences.
NF Microdeletiom syndrome
NF Microdeletiom syndrome is a rare severe form of neurofibromatosis. It occurs due to a chromosone deletion on 17q11.2. Approximately 5% of NF 1 patients present with his specific strand of NF. A patient with this presentation will be missing genes connected to the NF gene and also genes around it, resulting in many learning difficulties and medical conditions.
Affected individuals often have unusual body habitus and facial dysmorphism including facial coarsening, prominent forehead, ptosis, down-slanting palpebral fissures, hypertelorism, broad nose and nasal bridge, low set ears, and micrognathia.
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NF is one of the most common neurological conditions caused by a single gene mutation (a “spelling mistake” in the genetic code). NF occurs in all ethnic backgrounds, in both sexes, throughout the world.
50% of new diagnoses occur without any other member of the family having NF. Doctors call this a spontaneous gene mutation. This means that potentially any baby is at risk of developing NF.
A parent who has NF has a 50% risk (or 1 in 2 chance) of passing NF on to their child.
NF1 and NF2 are separate and distinct conditions and it is important to have a correct diagnosis from a doctor who knows about NF.
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