Neurofibromatosis
(NF 1, NF 2, Schwannomatosis, von Recklinghausen's disease)
Around 30 to 50 percent of all people with this disorder develop it from a mutation in their genes before they're even born, which doesn't have to do with their parents, where it is usually inherited, it's a dominant disorder
NF 2 affected by chromosome 22
and Schwannomatosis is affected by multiple genes
Prenatal Testing
Symptoms
~Barely there, lighter brown spots on the skin
~Spots in the armpit or genitalia regions
~Itty Bitty bumps on your eyes, specifically your iris (don't effect your vision)
~Bumps can be under you skin
~Bone deformities such as Scoliosis
~Tumor on your optic nerve
~Impairments in education or learning
~Large head size
~Below average height
NF 2
~Loss of Hearing
~Ringing Ears
~Poor Balance
~Frequent Headaches
Schwannomatosis
~Parts of your body become weaker
~Muscle loss
Affected Population
NF 2 effects teens and younger adults, usually until thirties.
Schwannomatosis generally effects older people, people that are past their twenties.
Nearly anyone can get this disorder, if a female in your family is a carrier.
Medical Assistance
~Neurological exams are a must, you have to see and check for growth on the brain or possibly on the spinal cord
~Have blood pressure checked frequently, and have checks on the spine for possible Scoliosis
~Only suggest special medical care and counselling as needed
~Genetic counselling is an option as a child gets older
~If the person or child is affected, they'll need regular check ups and monitoring
~Go to a doctor immediately if there are newer symptoms that worry you
Citations
~Staff, Mayo Clinic. "Neurofibromatosis." Symptoms and Causes. Mayo Clinic, 24 Dec. 2015. Web. 06 May 2016