neurofibromatosis

Thân thiện

A doctor explains neurofibromatosis to a patient using a medical diagram.

Definition

Noun: 1. A genetic disorder: Neurofibromatosis is an autosomal dominant disease. This means a person only needs to inherit one copy of the faulty gene from a parent to have the condition. 2. Characteristic features: The disorder is primarily characterized by the development of multiple benign tumors called neurofibromas along nerves. It is also often associated with spots on the skin (café-au-lait spots) and can involve various developmental abnormalities.

Usage Examples

• General Statement:
  • Neurofibromatosis is one of the most common genetic disorders affecting the nervous system.
• Medical Context:
  • The diagnosis of neurofibromatosis type 1 is based on specific clinical criteria, including the presence of café-au-lait spots.
  • Management of neurofibromatosis focuses on monitoring for complications and treating symptoms as they arise.

Advanced Usage

• Types: The term encompasses distinct types, primarily NF1 and NF2, which are caused by mutations in different genes.
  • Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is the more common form.
  • Neurofibromatosis type 2 (NF2) is characterized by tumors on the auditory nerves, often leading to hearing loss.

Variants and Related Words

• NF (n.): A common abbreviation for neurofibromatosis (e.g., "She was diagnosed with NF1.").
• Neurofibroma (n.): The type of benign nerve tumor that is the hallmark feature of neurofibromatosis.
• Autosomal dominant (adj. phrase): Describes the inheritance pattern of neurofibromatosis.

Synonyms

• von Recklinghausen disease: A historical name specifically for neurofibromatosis type 1 (NF1).

Học thuật

Noun

1. autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities

Từ đồng nghĩa

• von recklinghausen's disease