What is Neurofibromatosis, Type I (NF1)
Neurofibromatosis, Type 1 is a genetic condition that affects male and females equally.
Symptoms can vary widely between individuals diagnosed with the syndrome.
The syndrome is characterized by skin and pigmentation abnormalities and fibromatous tumors of the skin.
Syndrome Synonyms:
Neurofibromatosis, Peripheral Type NF1; Peripheral neurofibromatosis; Von Recklinghausen Disease
What gene change causes Neurofibromatosis, Type I (NF1)?
A damaged NF1 gene is responsible for causing the syndrome. In 50% of cases, the faulty gene is inherited from one parent in an autosomal dominant pattern. In the other 50% of cases, the mutation is a new one.
In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.
What are the main symptoms of Neurofibromatosis, Type I (NF1)?
Changes to skin color, specifically its pigmentation are a main symptom of the syndrome.
This includes Cafe-au-lait, or coffee-coloured spots on the skin which are characteristic of the condition.
The syndrome also causes the growth of non-cancerous tumors along nerves in the skin, brain, and other parts of the body. These tumors may trigger other health or medical conditions.
Learning difficulties are another recognized symptom of the condition.
Overall symptoms may vary widely between individuals in their presentation and severity.
Possible clinical traits/features:
Lisch nodules, Neurofibrosarcoma, Intellectual disability, mild, Meningioma, Specific learning disability, Astrocytoma, Aqueductal stenosis, Axillary freckling, Cafe-au-lait spot, Glaucoma, Genu valgum, Short stature, Hypertension, Hypertelorism, Hypsarrhythmia, Hydrocephalus, Inguinal freckling, Spinal neurofibromas, Tibial pseudarthrosis, Renal artery stenosis, Spina bifida, Scoliosis, Rhabdomyosarcoma, Parathyroid adenoma, Overgrowth, Optic nerve glioma, Seizure, Plexiform neurofibroma, Pheochromocytoma, Autosomal dominant inheritance.
How is it diagnosed?
To find out if someone has a diagnosis of Neurofibromatosis Type I (NF1), it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
