Conditions / Syndrome
neurofibromatosis 1
info · Syndrome · ICD-10: Q85.01
A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q
A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone.
Signs and symptoms
- Glioma
- Pheochromocytoma
- Inguinal freckling
- Multiple cafe-au-lait spots
- Few cafe-au-lait spots
- Axillary freckling
- Freckling
- Neurofibroma
- Specific learning disability
- Mild intellectual disability
Medications that may treat it
Also known as: NF1; Peripheral Neurofibromatosis; Recklinghausen's neurofibromatosis; neurofibromatosis type I; von Recklinghausen Disease