Neurofibromatosis type 1 (NF1) is one of the most prevalent rare diseases. Whilst penetrance is complete by adulthood, its expressivity is extremely variable with potential multi-systemic complications. Although NF1 is diagnosed clinically, molecular analysis has a part to play in the screening of atypical forms and in genetic counselling. The screening of complications is primarily based on a full annual clinical examination and an ophthalmological examination. Targeted paraclinical examinations will be carried out when clinical signs appear (neurological, ophthalmological, cutaneous, endocrinological, orthopaedic and cardiovascular, etc.). The implementation of routine paraclinical examinations, which are stressful for families, expensive and sometimes invasive (MRI under general anaesthetic), is only of minor interest and does not lead to any change in treatment if the child is asymptomatic. Part of the consultation should focus on evaluation of psychomotor development and learning difficulties, which are common features of this condition (50%), and impact the child’s quality of life.

1型神经纤维瘤病（NF1）是最普遍的罕见疾病之一。到成年期，外pen就完成了，但它的表现力却会随着潜在的多系统并发症而变化很大。尽管NF1在临床上得到了诊断，但分子分析在非典型形式的筛查和遗传咨询中起着一定作用。并发症的筛查主要基于全面的年度临床检查和眼科检查。当出现临床体征（神经，眼科，皮肤，内分泌，骨科和心血管疾病等）时，将进行有针对性的辅助临床检查。实施常规的临床辅助检查，这会给家庭带来压力，费用昂贵，有时甚至是侵入性检查（在全身麻醉下进行MRI检查），如果孩子没有症状，则仅引起很小的兴趣，不会导致治疗的任何改变。咨询的一部分应集中于对精神运动发育和学习困难的评估，这是这种情况的共同特征（50％），并且会影响孩子的生活质量。