Legius syndrome

info · Syndrome

A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14.

Signs and symptoms

Cafe-au-lait spot
Axillary freckling
Epicanthus
Hypotonia
Low posterior hairline
Hypertelorism
Specific learning disability
High palate
Posteriorly rotated ears
Downslanted palpebral fissures

Also known as: LGSS; NF1-like syndrome; neurofibromatosis type 1-like syndrome