Neurofibromatosis type 1

Also known as: von Recklinghausen disease

Autosomal dominant neurocutaneous disorder.

Medical specialty: Neurology
Subspecialty: Neurology / Neurocutaneous disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, café-au-lait macules in early childhood
Gene(s) involved: NF1, SPRED1

Etiology & mechanism

NF1 loss of function.

Gene(s) involved (2)

NF1SPRED1

Symptoms & signs (5)

axillary frecklingcafé-au-lait maculeslisch nodulesneurofibromasoptic glioma

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